Canonical Allele Identifier: CA2706084858

Gene: KIT

Linked Data

• dbSNP Id: rs2109776880

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727488_54727505dup , CM000666.2:g.54727488_54727505dup	GRCh38
NC_000004.11:g.55593654_55593671dup , CM000666.1:g.55593654_55593671dup	GRCh37
NC_000004.10:g.55288411_55288428dup	NCBI36
NG_007456.1:g.74494_74511dup , LRG_307:g.74494_74511dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1711_1728dup	ENSP00000390987.3:p.Asp576_His577insThrGlnLeuProTyrAsp
ENST00000685269.1:n.1798_1815dup
ENST00000686011.1:c.1708_1725dup	ENSP00000509704.1:p.Asp575_His576insThrGlnLeuProTyrAsp
ENST00000687109.1:c.1723_1740dup	ENSP00000509371.1:p.Asp580_His581insThrGlnLeuProTyrAsp
ENST00000687208.1:n.2135_2152dup
ENST00000687246.1:c.1708_1725dup	ENSP00000509114.1:p.Asp575_His576insThrGlnLeuProTyrAsp
ENST00000687265.1:n.1878_1895dup
ENST00000687295.1:c.1708_1725dup	ENSP00000509450.1:p.Asp575_His576insThrGlnLeuProTyrAsp
ENST00000689832.1:c.1723_1740dup	ENSP00000509084.1:p.Asp580_His581insThrGlnLeuProTyrAsp
ENST00000689994.1:c.1210_1227dup	ENSP00000509156.1:p.Asp409_His410insThrGlnLeuProTyrAsp
ENST00000690543.1:c.1711_1728dup	ENSP00000508831.1:p.Asp576_His577insThrGlnLeuProTyrAsp
ENST00000690917.1:n.1938_1955dup
ENST00000691361.1:n.630_647dup
ENST00000692783.1:c.1720_1737dup	ENSP00000508733.1:p.Asp579_His580insThrGlnLeuProTyrAsp
ENST00000692991.1:n.1817_1834dup
ENST00000288135.6:c.1720_1737dup MANE Select	ENSP00000288135.6:p.Asp579_His580insThrGlnLeuProTyrAsp
ENST00000288135.5:c.1720_1737dup	ENSP00000288135.5:p.Asp579_His580insThrGlnLeuProTyrAsp
ENST00000412167.6:c.1708_1725dup	ENSP00000390987.2:p.Asp575_His576insThrGlnLeuProTyrAsp
NM_000222.2:c.1720_1737dup , LRG_307t1:c.1720_1737dup	NP_000213.1:p.Asp579_His580insThrGlnLeuProTyrAsp
NM_001093772.1:c.1708_1725dup	NP_001087241.1:p.Asp575_His576insThrGlnLeuProTyrAsp
XM_005265740.1:c.1723_1740dup	XP_005265797.1:p.Asp580_His581insThrGlnLeuProTyrAsp
XM_005265741.1:c.1723_1740dup	XP_005265798.1:p.Asp580_His581insThrGlnLeuProTyrAsp
XM_005265742.1:c.1711_1728dup	XP_005265799.1:p.Asp576_His577insThrGlnLeuProTyrAsp
XM_005265742.3:c.1711_1728dup	XP_005265799.1:p.Asp576_His577insThrGlnLeuProTyrAsp
XM_017008178.1:c.1720_1737dup	XP_016863667.1:p.Asp579_His580insThrGlnLeuProTyrAsp
XM_017008179.1:c.1711_1728dup	XP_016863668.1:p.Asp576_His577insThrGlnLeuProTyrAsp
XM_017008180.1:c.1708_1725dup	XP_016863669.1:p.Asp575_His576insThrGlnLeuProTyrAsp
NM_000222.3:c.1720_1737dup MANE Select	NP_000213.1:p.Asp579_His580insThrGlnLeuProTyrAsp
NM_001093772.2:c.1708_1725dup	NP_001087241.1:p.Asp575_His576insThrGlnLeuProTyrAsp
NM_001385284.1:c.1723_1740dup	NP_001372213.1:p.Asp580_His581insThrGlnLeuProTyrAsp
NM_001385285.1:c.1720_1737dup	NP_001372214.1:p.Asp579_His580insThrGlnLeuProTyrAsp
NM_001385286.1:c.1708_1725dup	NP_001372215.1:p.Asp575_His576insThrGlnLeuProTyrAsp
NM_001385288.1:c.1711_1728dup	NP_001372217.1:p.Asp576_His577insThrGlnLeuProTyrAsp
NM_001385290.1:c.1723_1740dup	NP_001372219.1:p.Asp580_His581insThrGlnLeuProTyrAsp
NM_001385292.1:c.1711_1728dup	NP_001372221.1:p.Asp576_His577insThrGlnLeuProTyrAsp