Canonical Allele Identifier: CA2573052336

Gene: KIT

Linked Data

• dbSNP Id: rs2109775566

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727420_54727441del , CM000666.2:g.54727420_54727441del	GRCh38
NC_000004.11:g.55593586_55593607del , CM000666.1:g.55593586_55593607del	GRCh37
NC_000004.10:g.55288343_55288364del	NCBI36
NG_007456.1:g.74426_74447del , LRG_307:g.74426_74447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1643_1664del	ENSP00000390987.3:p.Pro548ArgfsTer6
ENST00000685269.1:n.1730_1751del
ENST00000686011.1:c.1640_1661del	ENSP00000509704.1:p.Pro547ArgfsTer6
ENST00000687109.1:c.1655_1676del	ENSP00000509371.1:p.Pro552ArgfsTer6
ENST00000687208.1:n.2067_2088del
ENST00000687246.1:c.1640_1661del	ENSP00000509114.1:p.Pro547ArgfsTer6
ENST00000687265.1:n.1810_1831del
ENST00000687295.1:c.1640_1661del	ENSP00000509450.1:p.Pro547ArgfsTer6
ENST00000689832.1:c.1655_1676del	ENSP00000509084.1:p.Pro552ArgfsTer6
ENST00000689994.1:c.1142_1163del	ENSP00000509156.1:p.Pro381ArgfsTer6
ENST00000690543.1:c.1643_1664del	ENSP00000508831.1:p.Pro548ArgfsTer6
ENST00000690917.1:n.1870_1891del
ENST00000691361.1:n.562_583del
ENST00000692783.1:c.1652_1673del	ENSP00000508733.1:p.Pro551ArgfsTer6
ENST00000692991.1:n.1749_1770del
ENST00000288135.6:c.1652_1673del MANE Select	ENSP00000288135.6:p.Pro551ArgfsTer6
ENST00000288135.5:c.1652_1673del	ENSP00000288135.5:p.Pro551ArgfsTer6
ENST00000412167.6:c.1640_1661del	ENSP00000390987.2:p.Pro547ArgfsTer6
NM_000222.2:c.1652_1673del , LRG_307t1:c.1652_1673del	NP_000213.1:p.Pro551ArgfsTer6
NM_001093772.1:c.1640_1661del	NP_001087241.1:p.Pro547ArgfsTer6
XM_005265740.1:c.1655_1676del	XP_005265797.1:p.Pro552ArgfsTer6
XM_005265741.1:c.1655_1676del	XP_005265798.1:p.Pro552ArgfsTer6
XM_005265742.1:c.1643_1664del	XP_005265799.1:p.Pro548ArgfsTer6
XM_005265742.3:c.1643_1664del	XP_005265799.1:p.Pro548ArgfsTer6
XM_017008178.1:c.1652_1673del	XP_016863667.1:p.Pro551ArgfsTer6
XM_017008179.1:c.1643_1664del	XP_016863668.1:p.Pro548ArgfsTer6
XM_017008180.1:c.1640_1661del	XP_016863669.1:p.Pro547ArgfsTer6
NM_000222.3:c.1652_1673del MANE Select	NP_000213.1:p.Pro551ArgfsTer6
NM_001093772.2:c.1640_1661del	NP_001087241.1:p.Pro547ArgfsTer6
NM_001385284.1:c.1655_1676del	NP_001372213.1:p.Pro552ArgfsTer6
NM_001385285.1:c.1652_1673del	NP_001372214.1:p.Pro551ArgfsTer6
NM_001385286.1:c.1640_1661del	NP_001372215.1:p.Pro547ArgfsTer6
NM_001385288.1:c.1643_1664del	NP_001372217.1:p.Pro548ArgfsTer6
NM_001385290.1:c.1655_1676del	NP_001372219.1:p.Pro552ArgfsTer6
NM_001385292.1:c.1643_1664del	NP_001372221.1:p.Pro548ArgfsTer6