Canonical Allele Identifier: CA2923479

Gene: KIT

Linked Data

• ClinVar Variation Id: 1499222
• ClinVar RCV Id: RCV002010508
• dbSNP Id: rs756523952
• ExAC: 4:55592044 AGTGGAT / A
• gnomAD v2: 4-55592044-AGTGGAT-A
• gnomAD v4: 4-54725878-AGTGGAT-A
• MyVariant Identifiers: chr4:g.55592045_55592050del (hg19) ; chr4:g.54725879_54725884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54725882_54725887del , CM000666.2:g.54725882_54725887del	GRCh38
NC_000004.11:g.55592048_55592053del , CM000666.1:g.55592048_55592053del	GRCh37
NC_000004.10:g.55286805_55286810del	NCBI36
NG_007456.1:g.72888_72893del , LRG_307:g.72888_72893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1375_1380del	ENSP00000390987.3:p.Asp459_Val460del
ENST00000685269.1:n.1450_1455del
ENST00000685816.1:c.310_315del	ENSP00000508749.1:p.Asp104_Val105del
ENST00000686011.1:c.1372_1377del	ENSP00000509704.1:p.Asp458_Val459del
ENST00000687109.1:c.1375_1380del	ENSP00000509371.1:p.Asp459_Val460del
ENST00000687208.1:n.1787_1792del
ENST00000687246.1:c.1372_1377del	ENSP00000509114.1:p.Asp458_Val459del
ENST00000687265.1:n.1542_1547del
ENST00000687295.1:c.1372_1377del	ENSP00000509450.1:p.Asp458_Val459del
ENST00000689832.1:c.1375_1380del	ENSP00000509084.1:p.Asp459_Val460del
ENST00000689994.1:c.862_867del	ENSP00000509156.1:p.Asp288_Val289del
ENST00000690543.1:c.1375_1380del	ENSP00000508831.1:p.Asp459_Val460del
ENST00000690917.1:n.1590_1595del
ENST00000691361.1:n.294_299del
ENST00000692783.1:c.1372_1377del	ENSP00000508733.1:p.Asp458_Val459del
ENST00000692991.1:n.1481_1486del
ENST00000288135.6:c.1372_1377del MANE Select	ENSP00000288135.6:p.Asp458_Val459del
ENST00000288135.5:c.1372_1377del	ENSP00000288135.5:p.Asp458_Val459del
ENST00000412167.6:c.1372_1377del	ENSP00000390987.2:p.Asp458_Val459del
NM_000222.2:c.1372_1377del , LRG_307t1:c.1372_1377del	NP_000213.1:p.Asp458_Val459del
NM_001093772.1:c.1372_1377del	NP_001087241.1:p.Asp458_Val459del
XM_005265740.1:c.1375_1380del	XP_005265797.1:p.Asp459_Val460del
XM_005265741.1:c.1375_1380del	XP_005265798.1:p.Asp459_Val460del
XM_005265742.1:c.1375_1380del	XP_005265799.1:p.Asp459_Val460del
XM_005265742.3:c.1375_1380del	XP_005265799.1:p.Asp459_Val460del
XM_017008178.1:c.1372_1377del	XP_016863667.1:p.Asp458_Val459del
XM_017008179.1:c.1375_1380del	XP_016863668.1:p.Asp459_Val460del
XM_017008180.1:c.1372_1377del	XP_016863669.1:p.Asp458_Val459del
NM_000222.3:c.1372_1377del MANE Select	NP_000213.1:p.Asp458_Val459del
NM_001093772.2:c.1372_1377del	NP_001087241.1:p.Asp458_Val459del
NM_001385284.1:c.1375_1380del	NP_001372213.1:p.Asp459_Val460del
NM_001385285.1:c.1372_1377del	NP_001372214.1:p.Asp458_Val459del
NM_001385286.1:c.1372_1377del	NP_001372215.1:p.Asp458_Val459del
NM_001385288.1:c.1375_1380del	NP_001372217.1:p.Asp459_Val460del
NM_001385290.1:c.1375_1380del	NP_001372219.1:p.Asp459_Val460del
NM_001385292.1:c.1375_1380del	NP_001372221.1:p.Asp459_Val460del