Canonical Allele Identifier: CA2850447370

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727437_54727438insTTC , CM000666.2:g.54727437_54727438insTTC	GRCh38
NC_000004.11:g.55593603_55593604insTTC , CM000666.1:g.55593603_55593604insTTC	GRCh37
NC_000004.10:g.55288360_55288361insTTC	NCBI36
NG_007456.1:g.74443_74444insTTC , LRG_307:g.74443_74444insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1660_1661insTTC	ENSP00000390987.3:p.Trp554delinsPheArg
ENST00000685269.1:n.1747_1748insTTC
ENST00000686011.1:c.1657_1658insTTC	ENSP00000509704.1:p.Trp553delinsPheArg
ENST00000687109.1:c.1672_1673insTTC	ENSP00000509371.1:p.Trp558delinsPheArg
ENST00000687208.1:n.2084_2085insTTC
ENST00000687246.1:c.1657_1658insTTC	ENSP00000509114.1:p.Trp553delinsPheArg
ENST00000687265.1:n.1827_1828insTTC
ENST00000687295.1:c.1657_1658insTTC	ENSP00000509450.1:p.Trp553delinsPheArg
ENST00000689832.1:c.1672_1673insTTC	ENSP00000509084.1:p.Trp558delinsPheArg
ENST00000689994.1:c.1159_1160insTTC	ENSP00000509156.1:p.Trp387delinsPheArg
ENST00000690543.1:c.1660_1661insTTC	ENSP00000508831.1:p.Trp554delinsPheArg
ENST00000690917.1:n.1887_1888insTTC
ENST00000691361.1:n.579_580insTTC
ENST00000692783.1:c.1669_1670insTTC	ENSP00000508733.1:p.Trp557delinsPheArg
ENST00000692991.1:n.1766_1767insTTC
ENST00000288135.6:c.1669_1670insTTC MANE Select	ENSP00000288135.6:p.Trp557delinsPheArg
ENST00000288135.5:c.1669_1670insTTC	ENSP00000288135.5:p.Trp557delinsPheArg
ENST00000412167.6:c.1657_1658insTTC	ENSP00000390987.2:p.Trp553delinsPheArg
NM_000222.2:c.1669_1670insTTC , LRG_307t1:c.1669_1670insTTC	NP_000213.1:p.Trp557delinsPheArg
NM_001093772.1:c.1657_1658insTTC	NP_001087241.1:p.Trp553delinsPheArg
XM_005265740.1:c.1672_1673insTTC	XP_005265797.1:p.Trp558delinsPheArg
XM_005265741.1:c.1672_1673insTTC	XP_005265798.1:p.Trp558delinsPheArg
XM_005265742.1:c.1660_1661insTTC	XP_005265799.1:p.Trp554delinsPheArg
XM_005265742.3:c.1660_1661insTTC	XP_005265799.1:p.Trp554delinsPheArg
XM_017008178.1:c.1669_1670insTTC	XP_016863667.1:p.Trp557delinsPheArg
XM_017008179.1:c.1660_1661insTTC	XP_016863668.1:p.Trp554delinsPheArg
XM_017008180.1:c.1657_1658insTTC	XP_016863669.1:p.Trp553delinsPheArg
NM_000222.3:c.1669_1670insTTC MANE Select	NP_000213.1:p.Trp557delinsPheArg
NM_001093772.2:c.1657_1658insTTC	NP_001087241.1:p.Trp553delinsPheArg
NM_001385284.1:c.1672_1673insTTC	NP_001372213.1:p.Trp558delinsPheArg
NM_001385285.1:c.1669_1670insTTC	NP_001372214.1:p.Trp557delinsPheArg
NM_001385286.1:c.1657_1658insTTC	NP_001372215.1:p.Trp553delinsPheArg
NM_001385288.1:c.1660_1661insTTC	NP_001372217.1:p.Trp554delinsPheArg
NM_001385290.1:c.1672_1673insTTC	NP_001372219.1:p.Trp558delinsPheArg
NM_001385292.1:c.1660_1661insTTC	NP_001372221.1:p.Trp554delinsPheArg