Canonical Allele Identifier: CA645516765
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM133636

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727423_54727437del , CM000666.2:g.54727423_54727437del GRCh38
NC_000004.11:g.55593589_55593603del , CM000666.1:g.55593589_55593603del GRCh37
NC_000004.10:g.55288346_55288360del NCBI36
NG_007456.1:g.74429_74443del , LRG_307:g.74429_74443del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1646_1660del ENSP00000390987.3:p.Met549_Trp554delinsArg
ENST00000685269.1:n.1733_1747del
ENST00000686011.1:c.1643_1657del ENSP00000509704.1:p.Met548_Trp553delinsArg
ENST00000687109.1:c.1658_1672del ENSP00000509371.1:p.Met553_Trp558delinsArg
ENST00000687208.1:n.2070_2084del
ENST00000687246.1:c.1643_1657del ENSP00000509114.1:p.Met548_Trp553delinsArg
ENST00000687265.1:n.1813_1827del
ENST00000687295.1:c.1643_1657del ENSP00000509450.1:p.Met548_Trp553delinsArg
ENST00000689832.1:c.1658_1672del ENSP00000509084.1:p.Met553_Trp558delinsArg
ENST00000689994.1:c.1145_1159del ENSP00000509156.1:p.Met382_Trp387delinsArg
ENST00000690543.1:c.1646_1660del ENSP00000508831.1:p.Met549_Trp554delinsArg
ENST00000690917.1:n.1873_1887del
ENST00000691361.1:n.565_579del
ENST00000692783.1:c.1655_1669del ENSP00000508733.1:p.Met552_Trp557delinsArg
ENST00000692991.1:n.1752_1766del
ENST00000288135.6:c.1655_1669del MANE Select ENSP00000288135.6:p.Met552_Trp557delinsArg
ENST00000288135.5:c.1655_1669del ENSP00000288135.5:p.Met552_Trp557delinsArg
ENST00000412167.6:c.1643_1657del ENSP00000390987.2:p.Met548_Trp553delinsArg
NM_000222.2:c.1655_1669del , LRG_307t1:c.1655_1669del NP_000213.1:p.Met552_Trp557delinsArg
NM_001093772.1:c.1643_1657del NP_001087241.1:p.Met548_Trp553delinsArg
XM_005265740.1:c.1658_1672del XP_005265797.1:p.Met553_Trp558delinsArg
XM_005265741.1:c.1658_1672del XP_005265798.1:p.Met553_Trp558delinsArg
XM_005265742.1:c.1646_1660del XP_005265799.1:p.Met549_Trp554delinsArg
XM_005265742.3:c.1646_1660del XP_005265799.1:p.Met549_Trp554delinsArg
XM_017008178.1:c.1655_1669del XP_016863667.1:p.Met552_Trp557delinsArg
XM_017008179.1:c.1646_1660del XP_016863668.1:p.Met549_Trp554delinsArg
XM_017008180.1:c.1643_1657del XP_016863669.1:p.Met548_Trp553delinsArg
NM_000222.3:c.1655_1669del MANE Select NP_000213.1:p.Met552_Trp557delinsArg
NM_001093772.2:c.1643_1657del NP_001087241.1:p.Met548_Trp553delinsArg
NM_001385284.1:c.1658_1672del NP_001372213.1:p.Met553_Trp558delinsArg
NM_001385285.1:c.1655_1669del NP_001372214.1:p.Met552_Trp557delinsArg
NM_001385286.1:c.1643_1657del NP_001372215.1:p.Met548_Trp553delinsArg
NM_001385288.1:c.1646_1660del NP_001372217.1:p.Met549_Trp554delinsArg
NM_001385290.1:c.1658_1672del NP_001372219.1:p.Met553_Trp558delinsArg
NM_001385292.1:c.1646_1660del NP_001372221.1:p.Met549_Trp554delinsArg