Canonical Allele Identifier: CA2586966014

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54728114_54728116dup , CM000666.2:g.54728114_54728116dup	GRCh38
NC_000004.11:g.55594280_55594282dup , CM000666.1:g.55594280_55594282dup	GRCh37
NC_000004.10:g.55289037_55289039dup	NCBI36
NG_007456.1:g.75120_75122dup , LRG_307:g.75120_75122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1974_1976dup	ENSP00000390987.3:p.Ile659_Gly660insIle
ENST00000685269.1:n.2061_2063dup
ENST00000686011.1:c.1971_1973dup	ENSP00000509704.1:p.Ile658_Gly659insIle
ENST00000687109.1:c.1986_1988dup	ENSP00000509371.1:p.Ile663_Gly664insIle
ENST00000687208.1:n.2398_2400dup
ENST00000687246.1:c.1971_1973dup	ENSP00000509114.1:p.Ile658_Gly659insIle
ENST00000687265.1:n.2141_2143dup
ENST00000687295.1:c.1971_1973dup	ENSP00000509450.1:p.Ile658_Gly659insIle
ENST00000689832.1:c.1986_1988dup	ENSP00000509084.1:p.Ile663_Gly664insIle
ENST00000689994.1:c.1473_1475dup	ENSP00000509156.1:p.Ile492_Gly493insIle
ENST00000690543.1:c.1974_1976dup	ENSP00000508831.1:p.Ile659_Gly660insIle
ENST00000690917.1:n.2201_2203dup
ENST00000691361.1:n.893_895dup
ENST00000692783.1:c.1983_1985dup	ENSP00000508733.1:p.Ile662_Gly663insIle
ENST00000692991.1:n.2080_2082dup
ENST00000288135.6:c.1983_1985dup MANE Select	ENSP00000288135.6:p.Ile662_Gly663insIle
ENST00000288135.5:c.1983_1985dup	ENSP00000288135.5:p.Ile662_Gly663insIle
ENST00000412167.6:c.1971_1973dup	ENSP00000390987.2:p.Ile658_Gly659insIle
NM_000222.2:c.1983_1985dup , LRG_307t1:c.1983_1985dup	NP_000213.1:p.Ile662_Gly663insIle
NM_001093772.1:c.1971_1973dup	NP_001087241.1:p.Ile658_Gly659insIle
XM_005265740.1:c.1986_1988dup	XP_005265797.1:p.Ile663_Gly664insIle
XM_005265741.1:c.1986_1988dup	XP_005265798.1:p.Ile663_Gly664insIle
XM_005265742.1:c.1974_1976dup	XP_005265799.1:p.Ile659_Gly660insIle
XM_005265742.3:c.1974_1976dup	XP_005265799.1:p.Ile659_Gly660insIle
XM_017008178.1:c.1983_1985dup	XP_016863667.1:p.Ile662_Gly663insIle
XM_017008179.1:c.1974_1976dup	XP_016863668.1:p.Ile659_Gly660insIle
XM_017008180.1:c.1971_1973dup	XP_016863669.1:p.Ile658_Gly659insIle
NM_000222.3:c.1983_1985dup MANE Select	NP_000213.1:p.Ile662_Gly663insIle
NM_001093772.2:c.1971_1973dup	NP_001087241.1:p.Ile658_Gly659insIle
NM_001385284.1:c.1986_1988dup	NP_001372213.1:p.Ile663_Gly664insIle
NM_001385285.1:c.1983_1985dup	NP_001372214.1:p.Ile662_Gly663insIle
NM_001385286.1:c.1971_1973dup	NP_001372215.1:p.Ile658_Gly659insIle
NM_001385288.1:c.1974_1976dup	NP_001372217.1:p.Ile659_Gly660insIle
NM_001385290.1:c.1986_1988dup	NP_001372219.1:p.Ile663_Gly664insIle
NM_001385292.1:c.1974_1976dup	NP_001372221.1:p.Ile659_Gly660insIle