Canonical Allele Identifier: CA645516908

Gene: KIT

Linked Data

• dbSNP Id: rs2109776840
• COSMIC: COSM18668

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727486_54727506dup , CM000666.2:g.54727486_54727506dup	GRCh38
NC_000004.11:g.55593652_55593672dup , CM000666.1:g.55593652_55593672dup	GRCh37
NC_000004.10:g.55288409_55288429dup	NCBI36
NG_007456.1:g.74492_74512dup , LRG_307:g.74492_74512dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1709_1729dup	ENSP00000390987.3:p.Asp576_His577insProThrGlnLeuProTyrAsp
ENST00000685269.1:n.1796_1816dup
ENST00000686011.1:c.1706_1726dup	ENSP00000509704.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
ENST00000687109.1:c.1721_1741dup	ENSP00000509371.1:p.Asp580_His581insProThrGlnLeuProTyrAsp
ENST00000687208.1:n.2133_2153dup
ENST00000687246.1:c.1706_1726dup	ENSP00000509114.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
ENST00000687265.1:n.1876_1896dup
ENST00000687295.1:c.1706_1726dup	ENSP00000509450.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
ENST00000689832.1:c.1721_1741dup	ENSP00000509084.1:p.Asp580_His581insProThrGlnLeuProTyrAsp
ENST00000689994.1:c.1208_1228dup	ENSP00000509156.1:p.Asp409_His410insProThrGlnLeuProTyrAsp
ENST00000690543.1:c.1709_1729dup	ENSP00000508831.1:p.Asp576_His577insProThrGlnLeuProTyrAsp
ENST00000690917.1:n.1936_1956dup
ENST00000691361.1:n.628_648dup
ENST00000692783.1:c.1718_1738dup	ENSP00000508733.1:p.Asp579_His580insProThrGlnLeuProTyrAsp
ENST00000692991.1:n.1815_1835dup
ENST00000288135.6:c.1718_1738dup MANE Select	ENSP00000288135.6:p.Asp579_His580insProThrGlnLeuProTyrAsp
ENST00000288135.5:c.1718_1738dup	ENSP00000288135.5:p.Asp579_His580insProThrGlnLeuProTyrAsp
ENST00000412167.6:c.1706_1726dup	ENSP00000390987.2:p.Asp575_His576insProThrGlnLeuProTyrAsp
NM_000222.2:c.1718_1738dup , LRG_307t1:c.1718_1738dup	NP_000213.1:p.Asp579_His580insProThrGlnLeuProTyrAsp
NM_001093772.1:c.1706_1726dup	NP_001087241.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
XM_005265740.1:c.1721_1741dup	XP_005265797.1:p.Asp580_His581insProThrGlnLeuProTyrAsp
XM_005265741.1:c.1721_1741dup	XP_005265798.1:p.Asp580_His581insProThrGlnLeuProTyrAsp
XM_005265742.1:c.1709_1729dup	XP_005265799.1:p.Asp576_His577insProThrGlnLeuProTyrAsp
XM_005265742.3:c.1709_1729dup	XP_005265799.1:p.Asp576_His577insProThrGlnLeuProTyrAsp
XM_017008178.1:c.1718_1738dup	XP_016863667.1:p.Asp579_His580insProThrGlnLeuProTyrAsp
XM_017008179.1:c.1709_1729dup	XP_016863668.1:p.Asp576_His577insProThrGlnLeuProTyrAsp
XM_017008180.1:c.1706_1726dup	XP_016863669.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
NM_000222.3:c.1718_1738dup MANE Select	NP_000213.1:p.Asp579_His580insProThrGlnLeuProTyrAsp
NM_001093772.2:c.1706_1726dup	NP_001087241.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
NM_001385284.1:c.1721_1741dup	NP_001372213.1:p.Asp580_His581insProThrGlnLeuProTyrAsp
NM_001385285.1:c.1718_1738dup	NP_001372214.1:p.Asp579_His580insProThrGlnLeuProTyrAsp
NM_001385286.1:c.1706_1726dup	NP_001372215.1:p.Asp575_His576insProThrGlnLeuProTyrAsp
NM_001385288.1:c.1709_1729dup	NP_001372217.1:p.Asp576_His577insProThrGlnLeuProTyrAsp
NM_001385290.1:c.1721_1741dup	NP_001372219.1:p.Asp580_His581insProThrGlnLeuProTyrAsp
NM_001385292.1:c.1709_1729dup	NP_001372221.1:p.Asp576_His577insProThrGlnLeuProTyrAsp