Canonical Allele Identifier: CA645516720

Gene: KIT

Linked Data

• dbSNP Id: rs2109769576
• COSMIC: COSM53306

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54726017_54726018insTTGCCT , CM000666.2:g.54726017_54726018insTTGCCT	GRCh38
NC_000004.11:g.55592183_55592184insTTGCCT , CM000666.1:g.55592183_55592184insTTGCCT	GRCh37
NC_000004.10:g.55286940_55286941insTTGCCT	NCBI36
NG_007456.1:g.73023_73024insTTGCCT , LRG_307:g.73023_73024insTTGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1510_1511insTTGCCT	ENSP00000390987.3:p.Ala503_Tyr504insPheAla
ENST00000685269.1:n.1585_1586insTTGCCT
ENST00000685816.1:c.445_446insTTGCCT	ENSP00000508749.1:p.Ala148_Tyr149insPheAla
ENST00000686011.1:c.1507_1508insTTGCCT	ENSP00000509704.1:p.Ala502_Tyr503insPheAla
ENST00000687109.1:c.1510_1511insTTGCCT	ENSP00000509371.1:p.Ala503_Tyr504insPheAla
ENST00000687208.1:n.1922_1923insTTGCCT
ENST00000687246.1:c.1507_1508insTTGCCT	ENSP00000509114.1:p.Ala502_Tyr503insPheAla
ENST00000687265.1:n.1677_1678insTTGCCT
ENST00000687295.1:c.1507_1508insTTGCCT	ENSP00000509450.1:p.Ala502_Tyr503insPheAla
ENST00000689832.1:c.1510_1511insTTGCCT	ENSP00000509084.1:p.Ala503_Tyr504insPheAla
ENST00000689994.1:c.997_998insTTGCCT	ENSP00000509156.1:p.Ala332_Tyr333insPheAla
ENST00000690543.1:c.1510_1511insTTGCCT	ENSP00000508831.1:p.Ala503_Tyr504insPheAla
ENST00000690917.1:n.1725_1726insTTGCCT
ENST00000691361.1:n.429_430insTTGCCT
ENST00000692783.1:c.1507_1508insTTGCCT	ENSP00000508733.1:p.Ala502_Tyr503insPheAla
ENST00000692991.1:n.1616_1617insTTGCCT
ENST00000288135.6:c.1507_1508insTTGCCT MANE Select	ENSP00000288135.6:p.Ala502_Tyr503insPheAla
ENST00000288135.5:c.1507_1508insTTGCCT	ENSP00000288135.5:p.Ala502_Tyr503insPheAla
ENST00000412167.6:c.1507_1508insTTGCCT	ENSP00000390987.2:p.Ala502_Tyr503insPheAla
NM_000222.2:c.1507_1508insTTGCCT , LRG_307t1:c.1507_1508insTTGCCT	NP_000213.1:p.Ala502_Tyr503insPheAla
NM_001093772.1:c.1507_1508insTTGCCT	NP_001087241.1:p.Ala502_Tyr503insPheAla
XM_005265740.1:c.1510_1511insTTGCCT	XP_005265797.1:p.Ala503_Tyr504insPheAla
XM_005265741.1:c.1510_1511insTTGCCT	XP_005265798.1:p.Ala503_Tyr504insPheAla
XM_005265742.1:c.1510_1511insTTGCCT	XP_005265799.1:p.Ala503_Tyr504insPheAla
XM_005265742.3:c.1510_1511insTTGCCT	XP_005265799.1:p.Ala503_Tyr504insPheAla
XM_017008178.1:c.1507_1508insTTGCCT	XP_016863667.1:p.Ala502_Tyr503insPheAla
XM_017008179.1:c.1510_1511insTTGCCT	XP_016863668.1:p.Ala503_Tyr504insPheAla
XM_017008180.1:c.1507_1508insTTGCCT	XP_016863669.1:p.Ala502_Tyr503insPheAla
NM_000222.3:c.1507_1508insTTGCCT MANE Select	NP_000213.1:p.Ala502_Tyr503insPheAla
NM_001093772.2:c.1507_1508insTTGCCT	NP_001087241.1:p.Ala502_Tyr503insPheAla
NM_001385284.1:c.1510_1511insTTGCCT	NP_001372213.1:p.Ala503_Tyr504insPheAla
NM_001385285.1:c.1507_1508insTTGCCT	NP_001372214.1:p.Ala502_Tyr503insPheAla
NM_001385286.1:c.1507_1508insTTGCCT	NP_001372215.1:p.Ala502_Tyr503insPheAla
NM_001385288.1:c.1510_1511insTTGCCT	NP_001372217.1:p.Ala503_Tyr504insPheAla
NM_001385290.1:c.1510_1511insTTGCCT	NP_001372219.1:p.Ala503_Tyr504insPheAla
NM_001385292.1:c.1510_1511insTTGCCT	NP_001372221.1:p.Ala503_Tyr504insPheAla