Canonical Allele Identifier: CA645516773
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM96947

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727429_54727461del , CM000666.2:g.54727429_54727461del GRCh38
NC_000004.11:g.55593595_55593627del , CM000666.1:g.55593595_55593627del GRCh37
NC_000004.10:g.55288352_55288384del NCBI36
NG_007456.1:g.74435_74467del , LRG_307:g.74435_74467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1652_1684del ENSP00000390987.3:p.Glu551_Asn561del
ENST00000685269.1:n.1739_1771del
ENST00000686011.1:c.1649_1681del ENSP00000509704.1:p.Glu550_Asn560del
ENST00000687109.1:c.1664_1696del ENSP00000509371.1:p.Glu555_Asn565del
ENST00000687208.1:n.2076_2108del
ENST00000687246.1:c.1649_1681del ENSP00000509114.1:p.Glu550_Asn560del
ENST00000687265.1:n.1819_1851del
ENST00000687295.1:c.1649_1681del ENSP00000509450.1:p.Glu550_Asn560del
ENST00000689832.1:c.1664_1696del ENSP00000509084.1:p.Glu555_Asn565del
ENST00000689994.1:c.1151_1183del ENSP00000509156.1:p.Glu384_Asn394del
ENST00000690543.1:c.1652_1684del ENSP00000508831.1:p.Glu551_Asn561del
ENST00000690917.1:n.1879_1911del
ENST00000691361.1:n.571_603del
ENST00000692783.1:c.1661_1693del ENSP00000508733.1:p.Glu554_Asn564del
ENST00000692991.1:n.1758_1790del
ENST00000288135.6:c.1661_1693del MANE Select ENSP00000288135.6:p.Glu554_Asn564del
ENST00000288135.5:c.1661_1693del ENSP00000288135.5:p.Glu554_Asn564del
ENST00000412167.6:c.1649_1681del ENSP00000390987.2:p.Glu550_Asn560del
NM_000222.2:c.1661_1693del , LRG_307t1:c.1661_1693del NP_000213.1:p.Glu554_Asn564del
NM_001093772.1:c.1649_1681del NP_001087241.1:p.Glu550_Asn560del
XM_005265740.1:c.1664_1696del XP_005265797.1:p.Glu555_Asn565del
XM_005265741.1:c.1664_1696del XP_005265798.1:p.Glu555_Asn565del
XM_005265742.1:c.1652_1684del XP_005265799.1:p.Glu551_Asn561del
XM_005265742.3:c.1652_1684del XP_005265799.1:p.Glu551_Asn561del
XM_017008178.1:c.1661_1693del XP_016863667.1:p.Glu554_Asn564del
XM_017008179.1:c.1652_1684del XP_016863668.1:p.Glu551_Asn561del
XM_017008180.1:c.1649_1681del XP_016863669.1:p.Glu550_Asn560del
NM_000222.3:c.1661_1693del MANE Select NP_000213.1:p.Glu554_Asn564del
NM_001093772.2:c.1649_1681del NP_001087241.1:p.Glu550_Asn560del
NM_001385284.1:c.1664_1696del NP_001372213.1:p.Glu555_Asn565del
NM_001385285.1:c.1661_1693del NP_001372214.1:p.Glu554_Asn564del
NM_001385286.1:c.1649_1681del NP_001372215.1:p.Glu550_Asn560del
NM_001385288.1:c.1652_1684del NP_001372217.1:p.Glu551_Asn561del
NM_001385290.1:c.1664_1696del NP_001372219.1:p.Glu555_Asn565del
NM_001385292.1:c.1652_1684del NP_001372221.1:p.Glu551_Asn561del