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Gene CDKN2A
Variant L62_E69del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CDKN2A L62_E69del results in the deletion of eight amino acids in ANK repeat 2 of the Cdkn2a protein from amino acids 62 to 69 (UniProt.org). L62_E69del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A L62_E69del

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Transcript NM_000077.5
gDNA chr9:g.21971158_21971181del24
cDNA c.185_208del24
Protein p.L62_E69delLLLLHGAE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69delLLLLHGAE RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970999_21971022del24 c.187_210del24 p.P63_L70delPVDLAEEL RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974621_21974644del24 c.184_207del24 p.G62_K69delGGRLWRTK RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970999_21971022del24 c.187_210del24 p.P63_L70delPVDLAEEL RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970999_21971022del24 c.187_210del24 p.P63_L70delPVDLAEEL RefSeq GRCh38/hg38
NM_058195.4 chr9:g.21971195_21994148del22954 c.184_207del22954 p.R62_G69delRRPGHDDG RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69delLLLLHGAE RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69delLLLLHGAE RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
NM_000077 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69delLLLLHGAE RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971158_21971181del24 c.185_208del24 p.L62_E69del RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21970999_21971022del24 c.187_210del24 p.P63_L70delPVDLAEEL RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References