Canonical Allele Identifier: CA645516896
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM29016

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727480_54727530del , CM000666.2:g.54727480_54727530del GRCh38
NC_000004.11:g.55593646_55593696del , CM000666.1:g.55593646_55593696del GRCh37
NC_000004.10:g.55288403_55288453del NCBI36
NG_007456.1:g.74486_74536del , LRG_307:g.74486_74536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1703_1753del ENSP00000390987.3:p.Ile568_Asn584del
ENST00000685269.1:n.1790_1840del
ENST00000686011.1:c.1700_1750del ENSP00000509704.1:p.Ile567_Asn583del
ENST00000687109.1:c.1715_1765del ENSP00000509371.1:p.Ile572_Asn588del
ENST00000687208.1:n.2127_2177del
ENST00000687246.1:c.1700_1750del ENSP00000509114.1:p.Ile567_Asn583del
ENST00000687265.1:n.1870_1920del
ENST00000687295.1:c.1700_1750del ENSP00000509450.1:p.Ile567_Asn583del
ENST00000689832.1:c.1715_1765del ENSP00000509084.1:p.Ile572_Asn588del
ENST00000689994.1:c.1202_1252del ENSP00000509156.1:p.Ile401_Asn417del
ENST00000690543.1:c.1703_1753del ENSP00000508831.1:p.Ile568_Asn584del
ENST00000690917.1:n.1930_1980del
ENST00000691361.1:n.622_672del
ENST00000692783.1:c.1712_1762del ENSP00000508733.1:p.Ile571_Asn587del
ENST00000692991.1:n.1809_1859del
ENST00000288135.6:c.1712_1762del MANE Select ENSP00000288135.6:p.Ile571_Asn587del
ENST00000288135.5:c.1712_1762del ENSP00000288135.5:p.Ile571_Asn587del
ENST00000412167.6:c.1700_1750del ENSP00000390987.2:p.Ile567_Asn583del
NM_000222.2:c.1712_1762del , LRG_307t1:c.1712_1762del NP_000213.1:p.Ile571_Asn587del
NM_001093772.1:c.1700_1750del NP_001087241.1:p.Ile567_Asn583del
XM_005265740.1:c.1715_1765del XP_005265797.1:p.Ile572_Asn588del
XM_005265741.1:c.1715_1765del XP_005265798.1:p.Ile572_Asn588del
XM_005265742.1:c.1703_1753del XP_005265799.1:p.Ile568_Asn584del
XM_005265742.3:c.1703_1753del XP_005265799.1:p.Ile568_Asn584del
XM_017008178.1:c.1712_1762del XP_016863667.1:p.Ile571_Asn587del
XM_017008179.1:c.1703_1753del XP_016863668.1:p.Ile568_Asn584del
XM_017008180.1:c.1700_1750del XP_016863669.1:p.Ile567_Asn583del
NM_000222.3:c.1712_1762del MANE Select NP_000213.1:p.Ile571_Asn587del
NM_001093772.2:c.1700_1750del NP_001087241.1:p.Ile567_Asn583del
NM_001385284.1:c.1715_1765del NP_001372213.1:p.Ile572_Asn588del
NM_001385285.1:c.1712_1762del NP_001372214.1:p.Ile571_Asn587del
NM_001385286.1:c.1700_1750del NP_001372215.1:p.Ile567_Asn583del
NM_001385288.1:c.1703_1753del NP_001372217.1:p.Ile568_Asn584del
NM_001385290.1:c.1715_1765del NP_001372219.1:p.Ile572_Asn588del
NM_001385292.1:c.1703_1753del NP_001372221.1:p.Ile568_Asn584del