Canonical Allele Identifier: CA645516737
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM1158

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727416_54727433del , CM000666.2:g.54727416_54727433del GRCh38
NC_000004.11:g.55593582_55593599del , CM000666.1:g.55593582_55593599del GRCh37
NC_000004.10:g.55288339_55288356del NCBI36
NG_007456.1:g.74422_74439del , LRG_307:g.74422_74439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1639_1656del ENSP00000390987.3:p.Lys547_Val552del
ENST00000685269.1:n.1726_1743del
ENST00000686011.1:c.1636_1653del ENSP00000509704.1:p.Lys546_Val551del
ENST00000687109.1:c.1651_1668del ENSP00000509371.1:p.Lys551_Val556del
ENST00000687208.1:n.2063_2080del
ENST00000687246.1:c.1636_1653del ENSP00000509114.1:p.Lys546_Val551del
ENST00000687265.1:n.1806_1823del
ENST00000687295.1:c.1636_1653del ENSP00000509450.1:p.Lys546_Val551del
ENST00000689832.1:c.1651_1668del ENSP00000509084.1:p.Lys551_Val556del
ENST00000689994.1:c.1138_1155del ENSP00000509156.1:p.Lys380_Val385del
ENST00000690543.1:c.1639_1656del ENSP00000508831.1:p.Lys547_Val552del
ENST00000690917.1:n.1866_1883del
ENST00000691361.1:n.558_575del
ENST00000692783.1:c.1648_1665del ENSP00000508733.1:p.Lys550_Val555del
ENST00000692991.1:n.1745_1762del
ENST00000288135.6:c.1648_1665del MANE Select ENSP00000288135.6:p.Lys550_Val555del
ENST00000288135.5:c.1648_1665del ENSP00000288135.5:p.Lys550_Val555del
ENST00000412167.6:c.1636_1653del ENSP00000390987.2:p.Lys546_Val551del
NM_000222.2:c.1648_1665del , LRG_307t1:c.1648_1665del NP_000213.1:p.Lys550_Val555del
NM_001093772.1:c.1636_1653del NP_001087241.1:p.Lys546_Val551del
XM_005265740.1:c.1651_1668del XP_005265797.1:p.Lys551_Val556del
XM_005265741.1:c.1651_1668del XP_005265798.1:p.Lys551_Val556del
XM_005265742.1:c.1639_1656del XP_005265799.1:p.Lys547_Val552del
XM_005265742.3:c.1639_1656del XP_005265799.1:p.Lys547_Val552del
XM_017008178.1:c.1648_1665del XP_016863667.1:p.Lys550_Val555del
XM_017008179.1:c.1639_1656del XP_016863668.1:p.Lys547_Val552del
XM_017008180.1:c.1636_1653del XP_016863669.1:p.Lys546_Val551del
NM_000222.3:c.1648_1665del MANE Select NP_000213.1:p.Lys550_Val555del
NM_001093772.2:c.1636_1653del NP_001087241.1:p.Lys546_Val551del
NM_001385284.1:c.1651_1668del NP_001372213.1:p.Lys551_Val556del
NM_001385285.1:c.1648_1665del NP_001372214.1:p.Lys550_Val555del
NM_001385286.1:c.1636_1653del NP_001372215.1:p.Lys546_Val551del
NM_001385288.1:c.1639_1656del NP_001372217.1:p.Lys547_Val552del
NM_001385290.1:c.1651_1668del NP_001372219.1:p.Lys551_Val556del
NM_001385292.1:c.1639_1656del NP_001372221.1:p.Lys547_Val552del