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Gene KIT
Variant Y503delinsFAH
Impact List indel
Protein Effect unknown
Gene Variant Descriptions KIT Y503delinsFAH results in the deletion of a tyrosine (Y) at amino acid 503 within Ig-like C2-type domain 5 (exon 9) of the Kit protein, combined with the insertion of three amino acids at the same site (UniProt.org). Y503delinsFAH has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon9 KIT exon 9 ins KIT Y503delinsFAH

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Transcript NM_000222.3
gDNA chr4:g.54726017_54726019delinsTTTGCACAT
cDNA c.1507_1509delinsTTTGCACAT
Protein p.Y503_503delinsFAH
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
NM_000222 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726017_54726019delinsTTTGCACAT c.1507_1509delinsTTTGCACAT p.Y503_503delinsFAH 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries