Canonical Allele Identifier: CA645516795

Gene: KIT

Linked Data

• dbSNP Id: rs2109775872
• COSMIC: COSM1207

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727434_54727446delinsT , CM000666.2:g.54727434_54727446delinsT	GRCh38
NC_000004.11:g.55593600_55593612delinsT , CM000666.1:g.55593600_55593612delinsT	GRCh37
NC_000004.10:g.55288357_55288369delinsT	NCBI36
NG_007456.1:g.74440_74452delinsT , LRG_307:g.74440_74452delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1657_1669delinsT	ENSP00000390987.3:p.Gln553_Val557delinsPhe
ENST00000685269.1:n.1744_1756delinsT
ENST00000686011.1:c.1654_1666delinsT	ENSP00000509704.1:p.Gln552_Val556delinsPhe
ENST00000687109.1:c.1669_1681delinsT	ENSP00000509371.1:p.Gln557_Val561delinsPhe
ENST00000687208.1:n.2081_2093delinsT
ENST00000687246.1:c.1654_1666delinsT	ENSP00000509114.1:p.Gln552_Val556delinsPhe
ENST00000687265.1:n.1824_1836delinsT
ENST00000687295.1:c.1654_1666delinsT	ENSP00000509450.1:p.Gln552_Val556delinsPhe
ENST00000689832.1:c.1669_1681delinsT	ENSP00000509084.1:p.Gln557_Val561delinsPhe
ENST00000689994.1:c.1156_1168delinsT	ENSP00000509156.1:p.Gln386_Val390delinsPhe
ENST00000690543.1:c.1657_1669delinsT	ENSP00000508831.1:p.Gln553_Val557delinsPhe
ENST00000690917.1:n.1884_1896delinsT
ENST00000691361.1:n.576_588delinsT
ENST00000692783.1:c.1666_1678delinsT	ENSP00000508733.1:p.Gln556_Val560delinsPhe
ENST00000692991.1:n.1763_1775delinsT
ENST00000288135.6:c.1666_1678delinsT MANE Select	ENSP00000288135.6:p.Gln556_Val560delinsPhe
ENST00000288135.5:c.1666_1678delinsT	ENSP00000288135.5:p.Gln556_Val560delinsPhe
ENST00000412167.6:c.1654_1666delinsT	ENSP00000390987.2:p.Gln552_Val556delinsPhe
NM_000222.2:c.1666_1678delinsT , LRG_307t1:c.1666_1678delinsT	NP_000213.1:p.Gln556_Val560delinsPhe
NM_001093772.1:c.1654_1666delinsT	NP_001087241.1:p.Gln552_Val556delinsPhe
XM_005265740.1:c.1669_1681delinsT	XP_005265797.1:p.Gln557_Val561delinsPhe
XM_005265741.1:c.1669_1681delinsT	XP_005265798.1:p.Gln557_Val561delinsPhe
XM_005265742.1:c.1657_1669delinsT	XP_005265799.1:p.Gln553_Val557delinsPhe
XM_005265742.3:c.1657_1669delinsT	XP_005265799.1:p.Gln553_Val557delinsPhe
XM_017008178.1:c.1666_1678delinsT	XP_016863667.1:p.Gln556_Val560delinsPhe
XM_017008179.1:c.1657_1669delinsT	XP_016863668.1:p.Gln553_Val557delinsPhe
XM_017008180.1:c.1654_1666delinsT	XP_016863669.1:p.Gln552_Val556delinsPhe
NM_000222.3:c.1666_1678delinsT MANE Select	NP_000213.1:p.Gln556_Val560delinsPhe
NM_001093772.2:c.1654_1666delinsT	NP_001087241.1:p.Gln552_Val556delinsPhe
NM_001385284.1:c.1669_1681delinsT	NP_001372213.1:p.Gln557_Val561delinsPhe
NM_001385285.1:c.1666_1678delinsT	NP_001372214.1:p.Gln556_Val560delinsPhe
NM_001385286.1:c.1654_1666delinsT	NP_001372215.1:p.Gln552_Val556delinsPhe
NM_001385288.1:c.1657_1669delinsT	NP_001372217.1:p.Gln553_Val557delinsPhe
NM_001385290.1:c.1669_1681delinsT	NP_001372219.1:p.Gln557_Val561delinsPhe
NM_001385292.1:c.1657_1669delinsT	NP_001372221.1:p.Gln553_Val557delinsPhe