Canonical Allele Identifier: CA16603143

Gene: KIT

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727447_54727448delinsAA , CM000666.2:g.54727447_54727448delinsAA	GRCh38
NC_000004.11:g.55593613_55593614delinsAA , CM000666.1:g.55593613_55593614delinsAA	GRCh37
NC_000004.10:g.55288370_55288371delinsAA	NCBI36
NG_007456.1:g.74453_74454delinsAA , LRG_307:g.74453_74454delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1670_1671delinsAA	ENSP00000390987.3:p.Val557Glu
ENST00000685269.1:n.1757_1758delinsAA
ENST00000686011.1:c.1667_1668delinsAA	ENSP00000509704.1:p.Val556Glu
ENST00000687109.1:c.1682_1683delinsAA	ENSP00000509371.1:p.Val561Glu
ENST00000687208.1:n.2094_2095delinsAA
ENST00000687246.1:c.1667_1668delinsAA	ENSP00000509114.1:p.Val556Glu
ENST00000687265.1:n.1837_1838delinsAA
ENST00000687295.1:c.1667_1668delinsAA	ENSP00000509450.1:p.Val556Glu
ENST00000689832.1:c.1682_1683delinsAA	ENSP00000509084.1:p.Val561Glu
ENST00000689994.1:c.1169_1170delinsAA	ENSP00000509156.1:p.Val390Glu
ENST00000690543.1:c.1670_1671delinsAA	ENSP00000508831.1:p.Val557Glu
ENST00000690917.1:n.1897_1898delinsAA
ENST00000691361.1:n.589_590delinsAA
ENST00000692783.1:c.1679_1680delinsAA	ENSP00000508733.1:p.Val560Glu
ENST00000692991.1:n.1776_1777delinsAA
ENST00000288135.6:c.1679_1680delinsAA MANE Select	ENSP00000288135.6:p.Val560Glu
ENST00000288135.5:c.1679_1680delinsAA	ENSP00000288135.5:p.Val560Glu
ENST00000412167.6:c.1667_1668delinsAA	ENSP00000390987.2:p.Val556Glu
NM_000222.2:c.1679_1680delinsAA , LRG_307t1:c.1679_1680delinsAA	NP_000213.1:p.Val560Glu
NM_001093772.1:c.1667_1668delinsAA	NP_001087241.1:p.Val556Glu
XM_005265740.1:c.1682_1683delinsAA	XP_005265797.1:p.Val561Glu
XM_005265741.1:c.1682_1683delinsAA	XP_005265798.1:p.Val561Glu
XM_005265742.1:c.1670_1671delinsAA	XP_005265799.1:p.Val557Glu
XM_005265742.3:c.1670_1671delinsAA	XP_005265799.1:p.Val557Glu
XM_017008178.1:c.1679_1680delinsAA	XP_016863667.1:p.Val560Glu
XM_017008179.1:c.1670_1671delinsAA	XP_016863668.1:p.Val557Glu
XM_017008180.1:c.1667_1668delinsAA	XP_016863669.1:p.Val556Glu
NM_000222.3:c.1679_1680delinsAA MANE Select	NP_000213.1:p.Val560Glu
NM_001093772.2:c.1667_1668delinsAA	NP_001087241.1:p.Val556Glu
NM_001385284.1:c.1682_1683delinsAA	NP_001372213.1:p.Val561Glu
NM_001385285.1:c.1679_1680delinsAA	NP_001372214.1:p.Val560Glu
NM_001385286.1:c.1667_1668delinsAA	NP_001372215.1:p.Val556Glu
NM_001385288.1:c.1670_1671delinsAA	NP_001372217.1:p.Val557Glu
NM_001385290.1:c.1682_1683delinsAA	NP_001372219.1:p.Val561Glu
NM_001385292.1:c.1670_1671delinsAA	NP_001372221.1:p.Val557Glu