Canonical Allele Identifier: CA645516889

Gene: KIT

Linked Data

• dbSNP Id: rs2109776683
• COSMIC: COSM1282

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727473_54727484del , CM000666.2:g.54727473_54727484del	GRCh38
NC_000004.11:g.55593639_55593650del , CM000666.1:g.55593639_55593650del	GRCh37
NC_000004.10:g.55288396_55288407del	NCBI36
NG_007456.1:g.74479_74490del , LRG_307:g.74479_74490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1696_1707del	ENSP00000390987.3:p.Val566_Asp569del
ENST00000685269.1:n.1783_1794del
ENST00000686011.1:c.1693_1704del	ENSP00000509704.1:p.Val565_Asp568del
ENST00000687109.1:c.1708_1719del	ENSP00000509371.1:p.Val570_Asp573del
ENST00000687208.1:n.2120_2131del
ENST00000687246.1:c.1693_1704del	ENSP00000509114.1:p.Val565_Asp568del
ENST00000687265.1:n.1863_1874del
ENST00000687295.1:c.1693_1704del	ENSP00000509450.1:p.Val565_Asp568del
ENST00000689832.1:c.1708_1719del	ENSP00000509084.1:p.Val570_Asp573del
ENST00000689994.1:c.1195_1206del	ENSP00000509156.1:p.Val399_Asp402del
ENST00000690543.1:c.1696_1707del	ENSP00000508831.1:p.Val566_Asp569del
ENST00000690917.1:n.1923_1934del
ENST00000691361.1:n.615_626del
ENST00000692783.1:c.1705_1716del	ENSP00000508733.1:p.Val569_Asp572del
ENST00000692991.1:n.1802_1813del
ENST00000288135.6:c.1705_1716del MANE Select	ENSP00000288135.6:p.Val569_Asp572del
ENST00000288135.5:c.1705_1716del	ENSP00000288135.5:p.Val569_Asp572del
ENST00000412167.6:c.1693_1704del	ENSP00000390987.2:p.Val565_Asp568del
NM_000222.2:c.1705_1716del , LRG_307t1:c.1705_1716del	NP_000213.1:p.Val569_Asp572del
NM_001093772.1:c.1693_1704del	NP_001087241.1:p.Val565_Asp568del
XM_005265740.1:c.1708_1719del	XP_005265797.1:p.Val570_Asp573del
XM_005265741.1:c.1708_1719del	XP_005265798.1:p.Val570_Asp573del
XM_005265742.1:c.1696_1707del	XP_005265799.1:p.Val566_Asp569del
XM_005265742.3:c.1696_1707del	XP_005265799.1:p.Val566_Asp569del
XM_017008178.1:c.1705_1716del	XP_016863667.1:p.Val569_Asp572del
XM_017008179.1:c.1696_1707del	XP_016863668.1:p.Val566_Asp569del
XM_017008180.1:c.1693_1704del	XP_016863669.1:p.Val565_Asp568del
NM_000222.3:c.1705_1716del MANE Select	NP_000213.1:p.Val569_Asp572del
NM_001093772.2:c.1693_1704del	NP_001087241.1:p.Val565_Asp568del
NM_001385284.1:c.1708_1719del	NP_001372213.1:p.Val570_Asp573del
NM_001385285.1:c.1705_1716del	NP_001372214.1:p.Val569_Asp572del
NM_001385286.1:c.1693_1704del	NP_001372215.1:p.Val565_Asp568del
NM_001385288.1:c.1696_1707del	NP_001372217.1:p.Val566_Asp569del
NM_001385290.1:c.1708_1719del	NP_001372219.1:p.Val570_Asp573del
NM_001385292.1:c.1696_1707del	NP_001372221.1:p.Val566_Asp569del