Canonical Allele Identifier: CA645516789

Gene: KIT

Linked Data

• COSMIC: COSM27070

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727433_54727484delinsT , CM000666.2:g.54727433_54727484delinsT	GRCh38
NC_000004.11:g.55593599_55593650delinsT , CM000666.1:g.55593599_55593650delinsT	GRCh37
NC_000004.10:g.55288356_55288407delinsT	NCBI36
NG_007456.1:g.74439_74490delinsT , LRG_307:g.74439_74490delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1656_1707delinsT	ENSP00000390987.3:p.Gln553_Asp569del
ENST00000685269.1:n.1743_1794delinsT
ENST00000686011.1:c.1653_1704delinsT	ENSP00000509704.1:p.Gln552_Asp568del
ENST00000687109.1:c.1668_1719delinsT	ENSP00000509371.1:p.Gln557_Asp573del
ENST00000687208.1:n.2080_2131delinsT
ENST00000687246.1:c.1653_1704delinsT	ENSP00000509114.1:p.Gln552_Asp568del
ENST00000687265.1:n.1823_1874delinsT
ENST00000687295.1:c.1653_1704delinsT	ENSP00000509450.1:p.Gln552_Asp568del
ENST00000689832.1:c.1668_1719delinsT	ENSP00000509084.1:p.Gln557_Asp573del
ENST00000689994.1:c.1155_1206delinsT	ENSP00000509156.1:p.Gln386_Asp402del
ENST00000690543.1:c.1656_1707delinsT	ENSP00000508831.1:p.Gln553_Asp569del
ENST00000690917.1:n.1883_1934delinsT
ENST00000691361.1:n.575_626delinsT
ENST00000692783.1:c.1665_1716delinsT	ENSP00000508733.1:p.Gln556_Asp572del
ENST00000692991.1:n.1762_1813delinsT
ENST00000288135.6:c.1665_1716delinsT MANE Select	ENSP00000288135.6:p.Gln556_Asp572del
ENST00000288135.5:c.1665_1716delinsT	ENSP00000288135.5:p.Gln556_Asp572del
ENST00000412167.6:c.1653_1704delinsT	ENSP00000390987.2:p.Gln552_Asp568del
NM_000222.2:c.1665_1716delinsT , LRG_307t1:c.1665_1716delinsT	NP_000213.1:p.Gln556_Asp572del
NM_001093772.1:c.1653_1704delinsT	NP_001087241.1:p.Gln552_Asp568del
XM_005265740.1:c.1668_1719delinsT	XP_005265797.1:p.Gln557_Asp573del
XM_005265741.1:c.1668_1719delinsT	XP_005265798.1:p.Gln557_Asp573del
XM_005265742.1:c.1656_1707delinsT	XP_005265799.1:p.Gln553_Asp569del
XM_005265742.3:c.1656_1707delinsT	XP_005265799.1:p.Gln553_Asp569del
XM_017008178.1:c.1665_1716delinsT	XP_016863667.1:p.Gln556_Asp572del
XM_017008179.1:c.1656_1707delinsT	XP_016863668.1:p.Gln553_Asp569del
XM_017008180.1:c.1653_1704delinsT	XP_016863669.1:p.Gln552_Asp568del
NM_000222.3:c.1665_1716delinsT MANE Select	NP_000213.1:p.Gln556_Asp572del
NM_001093772.2:c.1653_1704delinsT	NP_001087241.1:p.Gln552_Asp568del
NM_001385284.1:c.1668_1719delinsT	NP_001372213.1:p.Gln557_Asp573del
NM_001385285.1:c.1665_1716delinsT	NP_001372214.1:p.Gln556_Asp572del
NM_001385286.1:c.1653_1704delinsT	NP_001372215.1:p.Gln552_Asp568del
NM_001385288.1:c.1656_1707delinsT	NP_001372217.1:p.Gln553_Asp569del
NM_001385290.1:c.1668_1719delinsT	NP_001372219.1:p.Gln557_Asp573del
NM_001385292.1:c.1656_1707delinsT	NP_001372221.1:p.Gln553_Asp569del