Canonical Allele Identifier: CA645516945
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109801179

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733094_54733095delinsCC , CM000666.2:g.54733094_54733095delinsCC GRCh38
NC_000004.11:g.55599260_55599261delinsCC , CM000666.1:g.55599260_55599261delinsCC GRCh37
NC_000004.10:g.55294017_55294018delinsCC NCBI36
NG_007456.1:g.80100_80101delinsCC , LRG_307:g.80100_80101delinsCC

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.2374_2375delinsCC ENSP00000390987.3:p.Arg792Pro
ENST00000685269.1:n.2464_2465delinsCC
ENST00000686011.1:c.2371_2372delinsCC ENSP00000509704.1:p.Arg791Pro
ENST00000687109.1:c.2389_2390delinsCC ENSP00000509371.1:p.Arg797Pro
ENST00000687208.1:n.2798_2799delinsCC
ENST00000687246.1:c.2349+1096_2349+1097delinsCC ENSP00000509114.1:n.2349+1096_2349+1097de...
ENST00000687265.1:n.2544_2545delinsCC
ENST00000687295.1:c.2374_2375delinsCC ENSP00000509450.1:p.Arg792Pro
ENST00000688060.1:n.183_184delinsCC
ENST00000688704.1:n.1398_1399delinsCC
ENST00000689832.1:c.2386_2387delinsCC ENSP00000509084.1:p.Arg796Pro
ENST00000689994.1:c.1876_1877delinsCC ENSP00000509156.1:p.Arg626Pro
ENST00000690543.1:c.2377_2378delinsCC ENSP00000508831.1:p.Arg793Pro
ENST00000690917.1:n.2604_2605delinsCC
ENST00000691361.1:n.1296_1297delinsCC
ENST00000692783.1:c.2383_2384delinsCC ENSP00000508733.1:p.Arg795Pro
ENST00000692991.1:n.2483_2484delinsCC
ENST00000288135.6:c.2386_2387delinsCC MANE Select ENSP00000288135.6:p.Arg796Pro
ENST00000288135.5:c.2386_2387delinsCC ENSP00000288135.5:p.Arg796Pro
ENST00000412167.6:c.2374_2375delinsCC ENSP00000390987.2:p.Arg792Pro
ENST00000512959.1:n.439_440delinsCC
NM_000222.2:c.2386_2387delinsCC , LRG_307t1:c.2386_2387delinsCC NP_000213.1:p.Arg796Pro
NM_001093772.1:c.2374_2375delinsCC NP_001087241.1:p.Arg792Pro
XM_005265740.1:c.2389_2390delinsCC XP_005265797.1:p.Arg797Pro
XM_005265741.1:c.2386_2387delinsCC XP_005265798.1:p.Arg796Pro
XM_005265742.1:c.2377_2378delinsCC XP_005265799.1:p.Arg793Pro
XM_005265742.3:c.2377_2378delinsCC XP_005265799.1:p.Arg793Pro
XM_017008178.1:c.2383_2384delinsCC XP_016863667.1:p.Arg795Pro
XM_017008179.1:c.2374_2375delinsCC XP_016863668.1:p.Arg792Pro
XM_017008180.1:c.2371_2372delinsCC XP_016863669.1:p.Arg791Pro
NM_000222.3:c.2386_2387delinsCC MANE Select NP_000213.1:p.Arg796Pro
NM_001093772.2:c.2374_2375delinsCC NP_001087241.1:p.Arg792Pro
NM_001385284.1:c.2389_2390delinsCC NP_001372213.1:p.Arg797Pro
NM_001385285.1:c.2383_2384delinsCC NP_001372214.1:p.Arg795Pro
NM_001385286.1:c.2371_2372delinsCC NP_001372215.1:p.Arg791Pro
NM_001385288.1:c.2377_2378delinsCC NP_001372217.1:p.Arg793Pro
NM_001385290.1:c.2386_2387delinsCC NP_001372219.1:p.Arg796Pro
NM_001385292.1:c.2374_2375delinsCC NP_001372221.1:p.Arg792Pro