Canonical Allele Identifier: CA645516750
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM1177

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727421_54727438del , CM000666.2:g.54727421_54727438del GRCh38
NC_000004.11:g.55593587_55593604del , CM000666.1:g.55593587_55593604del GRCh37
NC_000004.10:g.55288344_55288361del NCBI36
NG_007456.1:g.74427_74444del , LRG_307:g.74427_74444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1644_1661del ENSP00000390987.3:p.Met549_Trp554del
ENST00000685269.1:n.1731_1748del
ENST00000686011.1:c.1641_1658del ENSP00000509704.1:p.Met548_Trp553del
ENST00000687109.1:c.1656_1673del ENSP00000509371.1:p.Met553_Trp558del
ENST00000687208.1:n.2068_2085del
ENST00000687246.1:c.1641_1658del ENSP00000509114.1:p.Met548_Trp553del
ENST00000687265.1:n.1811_1828del
ENST00000687295.1:c.1641_1658del ENSP00000509450.1:p.Met548_Trp553del
ENST00000689832.1:c.1656_1673del ENSP00000509084.1:p.Met553_Trp558del
ENST00000689994.1:c.1143_1160del ENSP00000509156.1:p.Met382_Trp387del
ENST00000690543.1:c.1644_1661del ENSP00000508831.1:p.Met549_Trp554del
ENST00000690917.1:n.1871_1888del
ENST00000691361.1:n.563_580del
ENST00000692783.1:c.1653_1670del ENSP00000508733.1:p.Met552_Trp557del
ENST00000692991.1:n.1750_1767del
ENST00000288135.6:c.1653_1670del MANE Select ENSP00000288135.6:p.Met552_Trp557del
ENST00000288135.5:c.1653_1670del ENSP00000288135.5:p.Met552_Trp557del
ENST00000412167.6:c.1641_1658del ENSP00000390987.2:p.Met548_Trp553del
NM_000222.2:c.1653_1670del , LRG_307t1:c.1653_1670del NP_000213.1:p.Met552_Trp557del
NM_001093772.1:c.1641_1658del NP_001087241.1:p.Met548_Trp553del
XM_005265740.1:c.1656_1673del XP_005265797.1:p.Met553_Trp558del
XM_005265741.1:c.1656_1673del XP_005265798.1:p.Met553_Trp558del
XM_005265742.1:c.1644_1661del XP_005265799.1:p.Met549_Trp554del
XM_005265742.3:c.1644_1661del XP_005265799.1:p.Met549_Trp554del
XM_017008178.1:c.1653_1670del XP_016863667.1:p.Met552_Trp557del
XM_017008179.1:c.1644_1661del XP_016863668.1:p.Met549_Trp554del
XM_017008180.1:c.1641_1658del XP_016863669.1:p.Met548_Trp553del
NM_000222.3:c.1653_1670del MANE Select NP_000213.1:p.Met552_Trp557del
NM_001093772.2:c.1641_1658del NP_001087241.1:p.Met548_Trp553del
NM_001385284.1:c.1656_1673del NP_001372213.1:p.Met553_Trp558del
NM_001385285.1:c.1653_1670del NP_001372214.1:p.Met552_Trp557del
NM_001385286.1:c.1641_1658del NP_001372215.1:p.Met548_Trp553del
NM_001385288.1:c.1644_1661del NP_001372217.1:p.Met549_Trp554del
NM_001385290.1:c.1656_1673del NP_001372219.1:p.Met553_Trp558del
NM_001385292.1:c.1644_1661del NP_001372221.1:p.Met549_Trp554del