Canonical Allele Identifier: CA645516822
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109776001
COSMIC: COSM1223

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727437_54727448del , CM000666.2:g.54727437_54727448del GRCh38
NC_000004.11:g.55593603_55593614del , CM000666.1:g.55593603_55593614del GRCh37
NC_000004.10:g.55288360_55288371del NCBI36
NG_007456.1:g.74443_74454del , LRG_307:g.74443_74454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1660_1671del ENSP00000390987.3:p.Trp554_Val557del
ENST00000685269.1:n.1747_1758del
ENST00000686011.1:c.1657_1668del ENSP00000509704.1:p.Trp553_Val556del
ENST00000687109.1:c.1672_1683del ENSP00000509371.1:p.Trp558_Val561del
ENST00000687208.1:n.2084_2095del
ENST00000687246.1:c.1657_1668del ENSP00000509114.1:p.Trp553_Val556del
ENST00000687265.1:n.1827_1838del
ENST00000687295.1:c.1657_1668del ENSP00000509450.1:p.Trp553_Val556del
ENST00000689832.1:c.1672_1683del ENSP00000509084.1:p.Trp558_Val561del
ENST00000689994.1:c.1159_1170del ENSP00000509156.1:p.Trp387_Val390del
ENST00000690543.1:c.1660_1671del ENSP00000508831.1:p.Trp554_Val557del
ENST00000690917.1:n.1887_1898del
ENST00000691361.1:n.579_590del
ENST00000692783.1:c.1669_1680del ENSP00000508733.1:p.Trp557_Val560del
ENST00000692991.1:n.1766_1777del
ENST00000288135.6:c.1669_1680del MANE Select ENSP00000288135.6:p.Trp557_Val560del
ENST00000288135.5:c.1669_1680del ENSP00000288135.5:p.Trp557_Val560del
ENST00000412167.6:c.1657_1668del ENSP00000390987.2:p.Trp553_Val556del
NM_000222.2:c.1669_1680del , LRG_307t1:c.1669_1680del NP_000213.1:p.Trp557_Val560del
NM_001093772.1:c.1657_1668del NP_001087241.1:p.Trp553_Val556del
XM_005265740.1:c.1672_1683del XP_005265797.1:p.Trp558_Val561del
XM_005265741.1:c.1672_1683del XP_005265798.1:p.Trp558_Val561del
XM_005265742.1:c.1660_1671del XP_005265799.1:p.Trp554_Val557del
XM_005265742.3:c.1660_1671del XP_005265799.1:p.Trp554_Val557del
XM_017008178.1:c.1669_1680del XP_016863667.1:p.Trp557_Val560del
XM_017008179.1:c.1660_1671del XP_016863668.1:p.Trp554_Val557del
XM_017008180.1:c.1657_1668del XP_016863669.1:p.Trp553_Val556del
NM_000222.3:c.1669_1680del MANE Select NP_000213.1:p.Trp557_Val560del
NM_001093772.2:c.1657_1668del NP_001087241.1:p.Trp553_Val556del
NM_001385284.1:c.1672_1683del NP_001372213.1:p.Trp558_Val561del
NM_001385285.1:c.1669_1680del NP_001372214.1:p.Trp557_Val560del
NM_001385286.1:c.1657_1668del NP_001372215.1:p.Trp553_Val556del
NM_001385288.1:c.1660_1671del NP_001372217.1:p.Trp554_Val557del
NM_001385290.1:c.1672_1683del NP_001372219.1:p.Trp558_Val561del
NM_001385292.1:c.1660_1671del NP_001372221.1:p.Trp554_Val557del