Canonical Allele Identifier: CA645516873

Gene: KIT

Linked Data

• dbSNP Id: rs2109776433
• COSMIC: COSM1267

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727454_54727474del , CM000666.2:g.54727454_54727474del	GRCh38
NC_000004.11:g.55593620_55593640del , CM000666.1:g.55593620_55593640del	GRCh37
NC_000004.10:g.55288377_55288397del	NCBI36
NG_007456.1:g.74460_74480del , LRG_307:g.74460_74480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1677_1697del	ENSP00000390987.3:p.Glu559_Val566delinsAsp
ENST00000685269.1:n.1764_1784del
ENST00000686011.1:c.1674_1694del	ENSP00000509704.1:p.Glu558_Val565delinsAsp
ENST00000687109.1:c.1689_1709del	ENSP00000509371.1:p.Glu563_Val570delinsAsp
ENST00000687208.1:n.2101_2121del
ENST00000687246.1:c.1674_1694del	ENSP00000509114.1:p.Glu558_Val565delinsAsp
ENST00000687265.1:n.1844_1864del
ENST00000687295.1:c.1674_1694del	ENSP00000509450.1:p.Glu558_Val565delinsAsp
ENST00000689832.1:c.1689_1709del	ENSP00000509084.1:p.Glu563_Val570delinsAsp
ENST00000689994.1:c.1176_1196del	ENSP00000509156.1:p.Glu392_Val399delinsAsp
ENST00000690543.1:c.1677_1697del	ENSP00000508831.1:p.Glu559_Val566delinsAsp
ENST00000690917.1:n.1904_1924del
ENST00000691361.1:n.596_616del
ENST00000692783.1:c.1686_1706del	ENSP00000508733.1:p.Glu562_Val569delinsAsp
ENST00000692991.1:n.1783_1803del
ENST00000288135.6:c.1686_1706del MANE Select	ENSP00000288135.6:p.Glu562_Val569delinsAsp
ENST00000288135.5:c.1686_1706del	ENSP00000288135.5:p.Glu562_Val569delinsAsp
ENST00000412167.6:c.1674_1694del	ENSP00000390987.2:p.Glu558_Val565delinsAsp
NM_000222.2:c.1686_1706del , LRG_307t1:c.1686_1706del	NP_000213.1:p.Glu562_Val569delinsAsp
NM_001093772.1:c.1674_1694del	NP_001087241.1:p.Glu558_Val565delinsAsp
XM_005265740.1:c.1689_1709del	XP_005265797.1:p.Glu563_Val570delinsAsp
XM_005265741.1:c.1689_1709del	XP_005265798.1:p.Glu563_Val570delinsAsp
XM_005265742.1:c.1677_1697del	XP_005265799.1:p.Glu559_Val566delinsAsp
XM_005265742.3:c.1677_1697del	XP_005265799.1:p.Glu559_Val566delinsAsp
XM_017008178.1:c.1686_1706del	XP_016863667.1:p.Glu562_Val569delinsAsp
XM_017008179.1:c.1677_1697del	XP_016863668.1:p.Glu559_Val566delinsAsp
XM_017008180.1:c.1674_1694del	XP_016863669.1:p.Glu558_Val565delinsAsp
NM_000222.3:c.1686_1706del MANE Select	NP_000213.1:p.Glu562_Val569delinsAsp
NM_001093772.2:c.1674_1694del	NP_001087241.1:p.Glu558_Val565delinsAsp
NM_001385284.1:c.1689_1709del	NP_001372213.1:p.Glu563_Val570delinsAsp
NM_001385285.1:c.1686_1706del	NP_001372214.1:p.Glu562_Val569delinsAsp
NM_001385286.1:c.1674_1694del	NP_001372215.1:p.Glu558_Val565delinsAsp
NM_001385288.1:c.1677_1697del	NP_001372217.1:p.Glu559_Val566delinsAsp
NM_001385290.1:c.1689_1709del	NP_001372219.1:p.Glu563_Val570delinsAsp
NM_001385292.1:c.1677_1697del	NP_001372221.1:p.Glu559_Val566delinsAsp