Canonical Allele Identifier: CA2499217281

Gene: KIT

Linked Data

• ClinVar Variation Id: 1299653
• ClinVar RCV Id: RCV001730126
• dbSNP Id: rs2109801456

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733123_54733130del , CM000666.2:g.54733123_54733130del	GRCh38
NC_000004.11:g.55599289_55599296del , CM000666.1:g.55599289_55599296del	GRCh37
NC_000004.10:g.55294046_55294053del	NCBI36
NG_007456.1:g.80129_80136del , LRG_307:g.80129_80136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2403_2410del	ENSP00000390987.3:p.Thr802LeufsTer2
ENST00000685269.1:n.2493_2500del
ENST00000686011.1:c.2400_2407del	ENSP00000509704.1:p.Thr801LeufsTer2
ENST00000687109.1:c.2418_2425del	ENSP00000509371.1:p.Thr807LeufsTer2
ENST00000687208.1:n.2827_2834del
ENST00000687246.1:c.2349+1125_2349+1132del	ENSP00000509114.1:n.2349+1125_2349+1132del
ENST00000687265.1:n.2573_2580del
ENST00000687295.1:c.2403_2410del	ENSP00000509450.1:p.Thr802LeufsTer2
ENST00000688060.1:n.212_219del
ENST00000688704.1:n.1427_1434del
ENST00000689832.1:c.2415_2422del	ENSP00000509084.1:p.Thr806LeufsTer2
ENST00000689994.1:c.1905_1912del	ENSP00000509156.1:p.Thr636LeufsTer2
ENST00000690543.1:c.2406_2413del	ENSP00000508831.1:p.Thr803LeufsTer2
ENST00000690917.1:n.2633_2640del
ENST00000691361.1:n.1325_1332del
ENST00000692783.1:c.2412_2419del	ENSP00000508733.1:p.Thr805LeufsTer2
ENST00000692991.1:n.2512_2519del
ENST00000288135.6:c.2415_2422del MANE Select	ENSP00000288135.6:p.Thr806LeufsTer2
ENST00000288135.5:c.2415_2422del	ENSP00000288135.5:p.Thr806LeufsTer2
ENST00000412167.6:c.2403_2410del	ENSP00000390987.2:p.Thr802LeufsTer2
ENST00000512959.1:n.468_475del
NM_000222.2:c.2415_2422del , LRG_307t1:c.2415_2422del	NP_000213.1:p.Thr806LeufsTer2
NM_001093772.1:c.2403_2410del	NP_001087241.1:p.Thr802LeufsTer2
XM_005265740.1:c.2418_2425del	XP_005265797.1:p.Thr807LeufsTer2
XM_005265741.1:c.2415_2422del	XP_005265798.1:p.Thr806LeufsTer2
XM_005265742.1:c.2406_2413del	XP_005265799.1:p.Thr803LeufsTer2
XM_005265742.3:c.2406_2413del	XP_005265799.1:p.Thr803LeufsTer2
XM_017008178.1:c.2412_2419del	XP_016863667.1:p.Thr805LeufsTer2
XM_017008179.1:c.2403_2410del	XP_016863668.1:p.Thr802LeufsTer2
XM_017008180.1:c.2400_2407del	XP_016863669.1:p.Thr801LeufsTer2
NM_000222.3:c.2415_2422del MANE Select	NP_000213.1:p.Thr806LeufsTer2
NM_001093772.2:c.2403_2410del	NP_001087241.1:p.Thr802LeufsTer2
NM_001385284.1:c.2418_2425del	NP_001372213.1:p.Thr807LeufsTer2
NM_001385285.1:c.2412_2419del	NP_001372214.1:p.Thr805LeufsTer2
NM_001385286.1:c.2400_2407del	NP_001372215.1:p.Thr801LeufsTer2
NM_001385288.1:c.2406_2413del	NP_001372217.1:p.Thr803LeufsTer2
NM_001385290.1:c.2415_2422del	NP_001372219.1:p.Thr806LeufsTer2
NM_001385292.1:c.2403_2410del	NP_001372221.1:p.Thr802LeufsTer2