Canonical Allele Identifier: CA645516888

Gene: KIT

Linked Data

• dbSNP Id: rs2109776663
• COSMIC: COSM133635

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727473_54727496del , CM000666.2:g.54727473_54727496del	GRCh38
NC_000004.11:g.55593639_55593662del , CM000666.1:g.55593639_55593662del	GRCh37
NC_000004.10:g.55288396_55288419del	NCBI36
NG_007456.1:g.74479_74502del , LRG_307:g.74479_74502del

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.1696_1719del	ENSP00000390987.3:p.Val566_Leu573del
ENST00000685269.1:n.1783_1806del
ENST00000686011.1:c.1693_1716del	ENSP00000509704.1:p.Val565_Leu572del
ENST00000687109.1:c.1708_1731del	ENSP00000509371.1:p.Val570_Leu577del
ENST00000687208.1:n.2120_2143del
ENST00000687246.1:c.1693_1716del	ENSP00000509114.1:p.Val565_Leu572del
ENST00000687265.1:n.1863_1886del
ENST00000687295.1:c.1693_1716del	ENSP00000509450.1:p.Val565_Leu572del
ENST00000689832.1:c.1708_1731del	ENSP00000509084.1:p.Val570_Leu577del
ENST00000689994.1:c.1195_1218del	ENSP00000509156.1:p.Val399_Leu406del
ENST00000690543.1:c.1696_1719del	ENSP00000508831.1:p.Val566_Leu573del
ENST00000690917.1:n.1923_1946del
ENST00000691361.1:n.615_638del
ENST00000692783.1:c.1705_1728del	ENSP00000508733.1:p.Val569_Leu576del
ENST00000692991.1:n.1802_1825del
ENST00000288135.6:c.1705_1728del MANE Select	ENSP00000288135.6:p.Val569_Leu576del
ENST00000288135.5:c.1705_1728del	ENSP00000288135.5:p.Val569_Leu576del
ENST00000412167.6:c.1693_1716del	ENSP00000390987.2:p.Val565_Leu572del
NM_000222.2:c.1705_1728del , LRG_307t1:c.1705_1728del	NP_000213.1:p.Val569_Leu576del
NM_001093772.1:c.1693_1716del	NP_001087241.1:p.Val565_Leu572del
XM_005265740.1:c.1708_1731del	XP_005265797.1:p.Val570_Leu577del
XM_005265741.1:c.1708_1731del	XP_005265798.1:p.Val570_Leu577del
XM_005265742.1:c.1696_1719del	XP_005265799.1:p.Val566_Leu573del
XM_005265742.3:c.1696_1719del	XP_005265799.1:p.Val566_Leu573del
XM_017008178.1:c.1705_1728del	XP_016863667.1:p.Val569_Leu576del
XM_017008179.1:c.1696_1719del	XP_016863668.1:p.Val566_Leu573del
XM_017008180.1:c.1693_1716del	XP_016863669.1:p.Val565_Leu572del
NM_000222.3:c.1705_1728del MANE Select	NP_000213.1:p.Val569_Leu576del
NM_001093772.2:c.1693_1716del	NP_001087241.1:p.Val565_Leu572del
NM_001385284.1:c.1708_1731del	NP_001372213.1:p.Val570_Leu577del
NM_001385285.1:c.1705_1728del	NP_001372214.1:p.Val569_Leu576del
NM_001385286.1:c.1693_1716del	NP_001372215.1:p.Val565_Leu572del
NM_001385288.1:c.1696_1719del	NP_001372217.1:p.Val566_Leu573del
NM_001385290.1:c.1708_1731del	NP_001372219.1:p.Val570_Leu577del
NM_001385292.1:c.1696_1719del	NP_001372221.1:p.Val566_Leu573del