Canonical Allele Identifier: CA645516921

Gene: KIT

Linked Data

• dbSNP Id: rs2109777019
• COSMIC: COSM1291

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727497_54727502del , CM000666.2:g.54727497_54727502del	GRCh38
NC_000004.11:g.55593663_55593668del , CM000666.1:g.55593663_55593668del	GRCh37
NC_000004.10:g.55288420_55288425del	NCBI36
NG_007456.1:g.74503_74508del , LRG_307:g.74503_74508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1720_1725del	ENSP00000390987.3:p.Pro574_Tyr575del
ENST00000685269.1:n.1807_1812del
ENST00000686011.1:c.1717_1722del	ENSP00000509704.1:p.Pro573_Tyr574del
ENST00000687109.1:c.1732_1737del	ENSP00000509371.1:p.Pro578_Tyr579del
ENST00000687208.1:n.2144_2149del
ENST00000687246.1:c.1717_1722del	ENSP00000509114.1:p.Pro573_Tyr574del
ENST00000687265.1:n.1887_1892del
ENST00000687295.1:c.1717_1722del	ENSP00000509450.1:p.Pro573_Tyr574del
ENST00000689832.1:c.1732_1737del	ENSP00000509084.1:p.Pro578_Tyr579del
ENST00000689994.1:c.1219_1224del	ENSP00000509156.1:p.Pro407_Tyr408del
ENST00000690543.1:c.1720_1725del	ENSP00000508831.1:p.Pro574_Tyr575del
ENST00000690917.1:n.1947_1952del
ENST00000691361.1:n.639_644del
ENST00000692783.1:c.1729_1734del	ENSP00000508733.1:p.Pro577_Tyr578del
ENST00000692991.1:n.1826_1831del
ENST00000288135.6:c.1729_1734del MANE Select	ENSP00000288135.6:p.Pro577_Tyr578del
ENST00000288135.5:c.1729_1734del	ENSP00000288135.5:p.Pro577_Tyr578del
ENST00000412167.6:c.1717_1722del	ENSP00000390987.2:p.Pro573_Tyr574del
NM_000222.2:c.1729_1734del , LRG_307t1:c.1729_1734del	NP_000213.1:p.Pro577_Tyr578del
NM_001093772.1:c.1717_1722del	NP_001087241.1:p.Pro573_Tyr574del
XM_005265740.1:c.1732_1737del	XP_005265797.1:p.Pro578_Tyr579del
XM_005265741.1:c.1732_1737del	XP_005265798.1:p.Pro578_Tyr579del
XM_005265742.1:c.1720_1725del	XP_005265799.1:p.Pro574_Tyr575del
XM_005265742.3:c.1720_1725del	XP_005265799.1:p.Pro574_Tyr575del
XM_017008178.1:c.1729_1734del	XP_016863667.1:p.Pro577_Tyr578del
XM_017008179.1:c.1720_1725del	XP_016863668.1:p.Pro574_Tyr575del
XM_017008180.1:c.1717_1722del	XP_016863669.1:p.Pro573_Tyr574del
NM_000222.3:c.1729_1734del MANE Select	NP_000213.1:p.Pro577_Tyr578del
NM_001093772.2:c.1717_1722del	NP_001087241.1:p.Pro573_Tyr574del
NM_001385284.1:c.1732_1737del	NP_001372213.1:p.Pro578_Tyr579del
NM_001385285.1:c.1729_1734del	NP_001372214.1:p.Pro577_Tyr578del
NM_001385286.1:c.1717_1722del	NP_001372215.1:p.Pro573_Tyr574del
NM_001385288.1:c.1720_1725del	NP_001372217.1:p.Pro574_Tyr575del
NM_001385290.1:c.1732_1737del	NP_001372219.1:p.Pro578_Tyr579del
NM_001385292.1:c.1720_1725del	NP_001372221.1:p.Pro574_Tyr575del