Canonical Allele Identifier: CA645516738

Gene: KIT

Linked Data

• dbSNP Id: rs2109775471
• COSMIC: COSM1160

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727417_54727422del , CM000666.2:g.54727417_54727422del	GRCh38
NC_000004.11:g.55593583_55593588del , CM000666.1:g.55593583_55593588del	GRCh37
NC_000004.10:g.55288340_55288345del	NCBI36
NG_007456.1:g.74423_74428del , LRG_307:g.74423_74428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1640_1645del	ENSP00000390987.3:p.Lys547_Pro548del
ENST00000685269.1:n.1727_1732del
ENST00000686011.1:c.1637_1642del	ENSP00000509704.1:p.Lys546_Pro547del
ENST00000687109.1:c.1652_1657del	ENSP00000509371.1:p.Lys551_Pro552del
ENST00000687208.1:n.2064_2069del
ENST00000687246.1:c.1637_1642del	ENSP00000509114.1:p.Lys546_Pro547del
ENST00000687265.1:n.1807_1812del
ENST00000687295.1:c.1637_1642del	ENSP00000509450.1:p.Lys546_Pro547del
ENST00000689832.1:c.1652_1657del	ENSP00000509084.1:p.Lys551_Pro552del
ENST00000689994.1:c.1139_1144del	ENSP00000509156.1:p.Lys380_Pro381del
ENST00000690543.1:c.1640_1645del	ENSP00000508831.1:p.Lys547_Pro548del
ENST00000690917.1:n.1867_1872del
ENST00000691361.1:n.559_564del
ENST00000692783.1:c.1649_1654del	ENSP00000508733.1:p.Lys550_Pro551del
ENST00000692991.1:n.1746_1751del
ENST00000288135.6:c.1649_1654del MANE Select	ENSP00000288135.6:p.Lys550_Pro551del
ENST00000288135.5:c.1649_1654del	ENSP00000288135.5:p.Lys550_Pro551del
ENST00000412167.6:c.1637_1642del	ENSP00000390987.2:p.Lys546_Pro547del
NM_000222.2:c.1649_1654del , LRG_307t1:c.1649_1654del	NP_000213.1:p.Lys550_Pro551del
NM_001093772.1:c.1637_1642del	NP_001087241.1:p.Lys546_Pro547del
XM_005265740.1:c.1652_1657del	XP_005265797.1:p.Lys551_Pro552del
XM_005265741.1:c.1652_1657del	XP_005265798.1:p.Lys551_Pro552del
XM_005265742.1:c.1640_1645del	XP_005265799.1:p.Lys547_Pro548del
XM_005265742.3:c.1640_1645del	XP_005265799.1:p.Lys547_Pro548del
XM_017008178.1:c.1649_1654del	XP_016863667.1:p.Lys550_Pro551del
XM_017008179.1:c.1640_1645del	XP_016863668.1:p.Lys547_Pro548del
XM_017008180.1:c.1637_1642del	XP_016863669.1:p.Lys546_Pro547del
NM_000222.3:c.1649_1654del MANE Select	NP_000213.1:p.Lys550_Pro551del
NM_001093772.2:c.1637_1642del	NP_001087241.1:p.Lys546_Pro547del
NM_001385284.1:c.1652_1657del	NP_001372213.1:p.Lys551_Pro552del
NM_001385285.1:c.1649_1654del	NP_001372214.1:p.Lys550_Pro551del
NM_001385286.1:c.1637_1642del	NP_001372215.1:p.Lys546_Pro547del
NM_001385288.1:c.1640_1645del	NP_001372217.1:p.Lys547_Pro548del
NM_001385290.1:c.1652_1657del	NP_001372219.1:p.Lys551_Pro552del
NM_001385292.1:c.1640_1645del	NP_001372221.1:p.Lys547_Pro548del