Canonical Allele Identifier: CA645516844
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM28991

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727442_54727477del , CM000666.2:g.54727442_54727477del GRCh38
NC_000004.11:g.55593608_55593643del , CM000666.1:g.55593608_55593643del GRCh37
NC_000004.10:g.55288365_55288400del NCBI36
NG_007456.1:g.74448_74483del , LRG_307:g.74448_74483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1665_1700del ENSP00000390987.3:p.Lys555_Tyr567delinsAsn
ENST00000685269.1:n.1752_1787del
ENST00000686011.1:c.1662_1697del ENSP00000509704.1:p.Lys554_Tyr566delinsAsn
ENST00000687109.1:c.1677_1712del ENSP00000509371.1:p.Lys559_Tyr571delinsAsn
ENST00000687208.1:n.2089_2124del
ENST00000687246.1:c.1662_1697del ENSP00000509114.1:p.Lys554_Tyr566delinsAsn
ENST00000687265.1:n.1832_1867del
ENST00000687295.1:c.1662_1697del ENSP00000509450.1:p.Lys554_Tyr566delinsAsn
ENST00000689832.1:c.1677_1712del ENSP00000509084.1:p.Lys559_Tyr571delinsAsn
ENST00000689994.1:c.1164_1199del ENSP00000509156.1:p.Lys388_Tyr400delinsAsn
ENST00000690543.1:c.1665_1700del ENSP00000508831.1:p.Lys555_Tyr567delinsAsn
ENST00000690917.1:n.1892_1927del
ENST00000691361.1:n.584_619del
ENST00000692783.1:c.1674_1709del ENSP00000508733.1:p.Lys558_Tyr570delinsAsn
ENST00000692991.1:n.1771_1806del
ENST00000288135.6:c.1674_1709del MANE Select ENSP00000288135.6:p.Lys558_Tyr570delinsAsn
ENST00000288135.5:c.1674_1709del ENSP00000288135.5:p.Lys558_Tyr570delinsAsn
ENST00000412167.6:c.1662_1697del ENSP00000390987.2:p.Lys554_Tyr566delinsAsn
NM_000222.2:c.1674_1709del , LRG_307t1:c.1674_1709del NP_000213.1:p.Lys558_Tyr570delinsAsn
NM_001093772.1:c.1662_1697del NP_001087241.1:p.Lys554_Tyr566delinsAsn
XM_005265740.1:c.1677_1712del XP_005265797.1:p.Lys559_Tyr571delinsAsn
XM_005265741.1:c.1677_1712del XP_005265798.1:p.Lys559_Tyr571delinsAsn
XM_005265742.1:c.1665_1700del XP_005265799.1:p.Lys555_Tyr567delinsAsn
XM_005265742.3:c.1665_1700del XP_005265799.1:p.Lys555_Tyr567delinsAsn
XM_017008178.1:c.1674_1709del XP_016863667.1:p.Lys558_Tyr570delinsAsn
XM_017008179.1:c.1665_1700del XP_016863668.1:p.Lys555_Tyr567delinsAsn
XM_017008180.1:c.1662_1697del XP_016863669.1:p.Lys554_Tyr566delinsAsn
NM_000222.3:c.1674_1709del MANE Select NP_000213.1:p.Lys558_Tyr570delinsAsn
NM_001093772.2:c.1662_1697del NP_001087241.1:p.Lys554_Tyr566delinsAsn
NM_001385284.1:c.1677_1712del NP_001372213.1:p.Lys559_Tyr571delinsAsn
NM_001385285.1:c.1674_1709del NP_001372214.1:p.Lys558_Tyr570delinsAsn
NM_001385286.1:c.1662_1697del NP_001372215.1:p.Lys554_Tyr566delinsAsn
NM_001385288.1:c.1665_1700del NP_001372217.1:p.Lys555_Tyr567delinsAsn
NM_001385290.1:c.1677_1712del NP_001372219.1:p.Lys559_Tyr571delinsAsn
NM_001385292.1:c.1665_1700del NP_001372221.1:p.Lys555_Tyr567delinsAsn