Canonical Allele Identifier: CA645516828

Gene: KIT

Linked Data

• dbSNP Id: rs2109776035
• COSMIC: COSM96948

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727438_54727441delinsCTTC , CM000666.2:g.54727438_54727441delinsCTTC	GRCh38
NC_000004.11:g.55593604_55593607delinsCTTC , CM000666.1:g.55593604_55593607delinsCTTC	GRCh37
NC_000004.10:g.55288361_55288364delinsCTTC	NCBI36
NG_007456.1:g.74444_74447delinsCTTC , LRG_307:g.74444_74447delinsCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1661_1664delinsCTTC	ENSP00000390987.3:p.Trp554_Lys555delinsSerSer
ENST00000685269.1:n.1748_1751delinsCTTC
ENST00000686011.1:c.1658_1661delinsCTTC	ENSP00000509704.1:p.Trp553_Lys554delinsSerSer
ENST00000687109.1:c.1673_1676delinsCTTC	ENSP00000509371.1:p.Trp558_Lys559delinsSerSer
ENST00000687208.1:n.2085_2088delinsCTTC
ENST00000687246.1:c.1658_1661delinsCTTC	ENSP00000509114.1:p.Trp553_Lys554delinsSerSer
ENST00000687265.1:n.1828_1831delinsCTTC
ENST00000687295.1:c.1658_1661delinsCTTC	ENSP00000509450.1:p.Trp553_Lys554delinsSerSer
ENST00000689832.1:c.1673_1676delinsCTTC	ENSP00000509084.1:p.Trp558_Lys559delinsSerSer
ENST00000689994.1:c.1160_1163delinsCTTC	ENSP00000509156.1:p.Trp387_Lys388delinsSerSer
ENST00000690543.1:c.1661_1664delinsCTTC	ENSP00000508831.1:p.Trp554_Lys555delinsSerSer
ENST00000690917.1:n.1888_1891delinsCTTC
ENST00000691361.1:n.580_583delinsCTTC
ENST00000692783.1:c.1670_1673delinsCTTC	ENSP00000508733.1:p.Trp557_Lys558delinsSerSer
ENST00000692991.1:n.1767_1770delinsCTTC
ENST00000288135.6:c.1670_1673delinsCTTC MANE Select	ENSP00000288135.6:p.Trp557_Lys558delinsSerSer
ENST00000288135.5:c.1670_1673delinsCTTC	ENSP00000288135.5:p.Trp557_Lys558delinsSerSer
ENST00000412167.6:c.1658_1661delinsCTTC	ENSP00000390987.2:p.Trp553_Lys554delinsSerSer
NM_000222.2:c.1670_1673delinsCTTC , LRG_307t1:c.1670_1673delinsCTTC	NP_000213.1:p.Trp557_Lys558delinsSerSer
NM_001093772.1:c.1658_1661delinsCTTC	NP_001087241.1:p.Trp553_Lys554delinsSerSer
XM_005265740.1:c.1673_1676delinsCTTC	XP_005265797.1:p.Trp558_Lys559delinsSerSer
XM_005265741.1:c.1673_1676delinsCTTC	XP_005265798.1:p.Trp558_Lys559delinsSerSer
XM_005265742.1:c.1661_1664delinsCTTC	XP_005265799.1:p.Trp554_Lys555delinsSerSer
XM_005265742.3:c.1661_1664delinsCTTC	XP_005265799.1:p.Trp554_Lys555delinsSerSer
XM_017008178.1:c.1670_1673delinsCTTC	XP_016863667.1:p.Trp557_Lys558delinsSerSer
XM_017008179.1:c.1661_1664delinsCTTC	XP_016863668.1:p.Trp554_Lys555delinsSerSer
XM_017008180.1:c.1658_1661delinsCTTC	XP_016863669.1:p.Trp553_Lys554delinsSerSer
NM_000222.3:c.1670_1673delinsCTTC MANE Select	NP_000213.1:p.Trp557_Lys558delinsSerSer
NM_001093772.2:c.1658_1661delinsCTTC	NP_001087241.1:p.Trp553_Lys554delinsSerSer
NM_001385284.1:c.1673_1676delinsCTTC	NP_001372213.1:p.Trp558_Lys559delinsSerSer
NM_001385285.1:c.1670_1673delinsCTTC	NP_001372214.1:p.Trp557_Lys558delinsSerSer
NM_001385286.1:c.1658_1661delinsCTTC	NP_001372215.1:p.Trp553_Lys554delinsSerSer
NM_001385288.1:c.1661_1664delinsCTTC	NP_001372217.1:p.Trp554_Lys555delinsSerSer
NM_001385290.1:c.1673_1676delinsCTTC	NP_001372219.1:p.Trp558_Lys559delinsSerSer
NM_001385292.1:c.1661_1664delinsCTTC	NP_001372221.1:p.Trp554_Lys555delinsSerSer