Canonical Allele Identifier: CA645516854
Community Standard Title: NM_000222.3(KIT):c.1674_1676del (p.Lys558_Val559delinsAsn)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727442_54727444del , CM000666.2:g.54727442_54727444del GRCh38
NC_000004.11:g.55593608_55593610del , CM000666.1:g.55593608_55593610del GRCh37
NC_000004.10:g.55288365_55288367del NCBI36
NG_007456.1:g.74448_74450del , LRG_307:g.74448_74450del

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1674_1676del MANE Select NP_000213.1:p.Lys558_Val559delinsAsn
ENST00000288135.6:c.1674_1676del MANE Select ENSP00000288135.6:p.Lys558_Val559delinsAsn
NM_000222.2:c.1674_1676del , LRG_307t1:c.1674_1676del NP_000213.1:p.Lys558_Val559delinsAsn
NM_001093772.1:c.1662_1664del NP_001087241.1:p.Lys554_Val555delinsAsn
NM_001093772.2:c.1662_1664del NP_001087241.1:p.Lys554_Val555delinsAsn
NM_001385284.1:c.1677_1679del NP_001372213.1:p.Lys559_Val560delinsAsn
NM_001385285.1:c.1674_1676del NP_001372214.1:p.Lys558_Val559delinsAsn
NM_001385286.1:c.1662_1664del NP_001372215.1:p.Lys554_Val555delinsAsn
NM_001385288.1:c.1665_1667del NP_001372217.1:p.Lys555_Val556delinsAsn
NM_001385290.1:c.1677_1679del NP_001372219.1:p.Lys559_Val560delinsAsn
NM_001385292.1:c.1665_1667del NP_001372221.1:p.Lys555_Val556delinsAsn
ENST00000288135.5:c.1674_1676del ENSP00000288135.5:p.Lys558_Val559delinsAsn
ENST00000412167.6:c.1662_1664del ENSP00000390987.2:p.Lys554_Val555delinsAsn
ENST00000412167.7:c.1665_1667del ENSP00000390987.3:p.Lys555_Val556delinsAsn
ENST00000685269.1:n.1752_1754del
ENST00000686011.1:c.1662_1664del ENSP00000509704.1:p.Lys554_Val555delinsAsn
ENST00000687109.1:c.1677_1679del ENSP00000509371.1:p.Lys559_Val560delinsAsn
ENST00000687208.1:n.2089_2091del
ENST00000687246.1:c.1662_1664del ENSP00000509114.1:p.Lys554_Val555delinsAsn
ENST00000687265.1:n.1832_1834del
ENST00000687295.1:c.1662_1664del ENSP00000509450.1:p.Lys554_Val555delinsAsn
ENST00000689832.1:c.1677_1679del ENSP00000509084.1:p.Lys559_Val560delinsAsn
ENST00000689994.1:c.1164_1166del ENSP00000509156.1:p.Lys388_Val389delinsAsn
ENST00000690543.1:c.1665_1667del ENSP00000508831.1:p.Lys555_Val556delinsAsn
ENST00000690917.1:n.1892_1894del
ENST00000691361.1:n.584_586del
ENST00000692783.1:c.1674_1676del ENSP00000508733.1:p.Lys558_Val559delinsAsn
ENST00000692991.1:n.1771_1773del
XM_005265740.1:c.1677_1679del XP_005265797.1:p.Lys559_Val560delinsAsn
XM_005265741.1:c.1677_1679del XP_005265798.1:p.Lys559_Val560delinsAsn
XM_005265742.1:c.1665_1667del XP_005265799.1:p.Lys555_Val556delinsAsn
XM_005265742.3:c.1665_1667del XP_005265799.1:p.Lys555_Val556delinsAsn
XM_017008178.1:c.1674_1676del XP_016863667.1:p.Lys558_Val559delinsAsn
XM_017008179.1:c.1665_1667del XP_016863668.1:p.Lys555_Val556delinsAsn
XM_017008180.1:c.1662_1664del XP_016863669.1:p.Lys554_Val555delinsAsn