Canonical Allele Identifier: CA2573138232
Gene: KIT HGNC NCBI

Linked Data

ClinVar Variation Id: 1438243
ClinVar RCV Id: RCV001965129
dbSNP Id: rs2109782285

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54728122del , CM000666.2:g.54728122del GRCh38
NC_000004.11:g.55594288del , CM000666.1:g.55594288del GRCh37
NC_000004.10:g.55289045del NCBI36
NG_007456.1:g.75128del , LRG_307:g.75128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1981+1del
ENST00000685269.1:n.2068+1del
ENST00000686011.1:c.1978+1del
ENST00000687109.1:c.1993+1del
ENST00000687208.1:n.2405+1del
ENST00000687246.1:c.1978+1del
ENST00000687265.1:n.2148+1del
ENST00000687295.1:c.1978+1del
ENST00000689832.1:c.1993+1del
ENST00000689994.1:c.1480+1del
ENST00000690543.1:c.1981+1del
ENST00000690917.1:n.2208+1del
ENST00000691361.1:n.900+1del
ENST00000692783.1:c.1990+1del
ENST00000692991.1:n.2087+1del
ENST00000288135.6:c.1990+1del
ENST00000288135.5:c.1990+1del
ENST00000412167.6:c.1978+1del
NM_000222.2:c.1990+1del , LRG_307t1:c.1990+1del
NM_001093772.1:c.1978+1del
XM_005265740.1:c.1993+1del
XM_005265741.1:c.1993+1del
XM_005265742.1:c.1981+1del
XM_005265742.3:c.1981+1del
XM_017008178.1:c.1990+1del
XM_017008179.1:c.1981+1del
XM_017008180.1:c.1978+1del
NM_000222.3:c.1990+1del
NM_001093772.2:c.1978+1del
NM_001385284.1:c.1993+1del
NM_001385285.1:c.1990+1del
NM_001385286.1:c.1978+1del
NM_001385288.1:c.1981+1del
NM_001385290.1:c.1993+1del
NM_001385292.1:c.1981+1del