Canonical Allele Identifier: CA645516913

Gene: KIT

Linked Data

• dbSNP Id: rs2109776934
• COSMIC: COSM1292

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727492_54727497dup , CM000666.2:g.54727492_54727497dup	GRCh38
NC_000004.11:g.55593658_55593663dup , CM000666.1:g.55593658_55593663dup	GRCh37
NC_000004.10:g.55288415_55288420dup	NCBI36
NG_007456.1:g.74498_74503dup , LRG_307:g.74498_74503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1715_1720dup	ENSP00000390987.3:p.Leu573_Pro574insGlnLeu
ENST00000685269.1:n.1802_1807dup
ENST00000686011.1:c.1712_1717dup	ENSP00000509704.1:p.Leu572_Pro573insGlnLeu
ENST00000687109.1:c.1727_1732dup	ENSP00000509371.1:p.Leu577_Pro578insGlnLeu
ENST00000687208.1:n.2139_2144dup
ENST00000687246.1:c.1712_1717dup	ENSP00000509114.1:p.Leu572_Pro573insGlnLeu
ENST00000687265.1:n.1882_1887dup
ENST00000687295.1:c.1712_1717dup	ENSP00000509450.1:p.Leu572_Pro573insGlnLeu
ENST00000689832.1:c.1727_1732dup	ENSP00000509084.1:p.Leu577_Pro578insGlnLeu
ENST00000689994.1:c.1214_1219dup	ENSP00000509156.1:p.Leu406_Pro407insGlnLeu
ENST00000690543.1:c.1715_1720dup	ENSP00000508831.1:p.Leu573_Pro574insGlnLeu
ENST00000690917.1:n.1942_1947dup
ENST00000691361.1:n.634_639dup
ENST00000692783.1:c.1724_1729dup	ENSP00000508733.1:p.Leu576_Pro577insGlnLeu
ENST00000692991.1:n.1821_1826dup
ENST00000288135.6:c.1724_1729dup MANE Select	ENSP00000288135.6:p.Leu576_Pro577insGlnLeu
ENST00000288135.5:c.1724_1729dup	ENSP00000288135.5:p.Leu576_Pro577insGlnLeu
ENST00000412167.6:c.1712_1717dup	ENSP00000390987.2:p.Leu572_Pro573insGlnLeu
NM_000222.2:c.1724_1729dup , LRG_307t1:c.1724_1729dup	NP_000213.1:p.Leu576_Pro577insGlnLeu
NM_001093772.1:c.1712_1717dup	NP_001087241.1:p.Leu572_Pro573insGlnLeu
XM_005265740.1:c.1727_1732dup	XP_005265797.1:p.Leu577_Pro578insGlnLeu
XM_005265741.1:c.1727_1732dup	XP_005265798.1:p.Leu577_Pro578insGlnLeu
XM_005265742.1:c.1715_1720dup	XP_005265799.1:p.Leu573_Pro574insGlnLeu
XM_005265742.3:c.1715_1720dup	XP_005265799.1:p.Leu573_Pro574insGlnLeu
XM_017008178.1:c.1724_1729dup	XP_016863667.1:p.Leu576_Pro577insGlnLeu
XM_017008179.1:c.1715_1720dup	XP_016863668.1:p.Leu573_Pro574insGlnLeu
XM_017008180.1:c.1712_1717dup	XP_016863669.1:p.Leu572_Pro573insGlnLeu
NM_000222.3:c.1724_1729dup MANE Select	NP_000213.1:p.Leu576_Pro577insGlnLeu
NM_001093772.2:c.1712_1717dup	NP_001087241.1:p.Leu572_Pro573insGlnLeu
NM_001385284.1:c.1727_1732dup	NP_001372213.1:p.Leu577_Pro578insGlnLeu
NM_001385285.1:c.1724_1729dup	NP_001372214.1:p.Leu576_Pro577insGlnLeu
NM_001385286.1:c.1712_1717dup	NP_001372215.1:p.Leu572_Pro573insGlnLeu
NM_001385288.1:c.1715_1720dup	NP_001372217.1:p.Leu573_Pro574insGlnLeu
NM_001385290.1:c.1727_1732dup	NP_001372219.1:p.Leu577_Pro578insGlnLeu
NM_001385292.1:c.1715_1720dup	NP_001372221.1:p.Leu573_Pro574insGlnLeu