Canonical Allele Identifier: CA2841359101
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092492_119092493del , CM000673.2:g.119092492_119092493del GRCh38
NC_000011.9:g.118963202_118963203del , CM000673.1:g.118963202_118963203del GRCh37
NC_000011.8:g.118468412_118468413del NCBI36
NG_008093.1:g.12616_12617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.575_576del ENSP00000509288.1:p.Cys192TyrfsTer3
ENST00000691144.1:n.2721_2722del
ENST00000691249.1:n.1564_1565del
ENST00000442944.7:c.722_723del ENSP00000392041.3:p.Cys241TyrfsTer3
ENST00000640813.1:c.550_551del ENSP00000491061.1:p.Ala184IlefsTer?
ENST00000648026.1:c.634_635del ENSP00000498044.1:p.Ala212IlefsTer?
ENST00000648374.1:c.689_690del ENSP00000497255.1:p.Cys230TyrfsTer3
ENST00000649823.1:n.1197_1198del
ENST00000650101.1:c.671_672del ENSP00000496970.1:p.Cys224TyrfsTer3
ENST00000650307.1:n.1566_1567del
ENST00000652429.1:c.740_741del MANE Select ENSP00000498786.1:p.Cys247TyrfsTer3
ENST00000278715.7:c.740_741del ENSP00000278715.3:p.Cys247TyrfsTer3
ENST00000392841.1:c.689_690del ENSP00000376584.1:p.Cys230TyrfsTer3
ENST00000442944.6:c.689_690del ENSP00000392041.2:p.Cys230TyrfsTer3
ENST00000537841.5:c.689_690del ENSP00000444730.1:p.Cys230TyrfsTer3
ENST00000542044.5:n.1185_1186del
ENST00000542729.5:c.601-266_601-265del ENSP00000443058.1:n.601-266_601-265del
ENST00000543090.5:c.647_648del ENSP00000445429.1:p.Cys216TyrfsTer3
ENST00000543543.5:n.1215_1216del
ENST00000544182.1:n.955_956del
ENST00000544387.5:c.652-266_652-265del ENSP00000438424.1:n.652-266_652-265del
ENST00000545621.5:c.*875_*876del ENSP00000444849.1:n.*875_*876del
ENST00000546226.5:n.1268_1269del
NM_000190.3:c.740_741del NP_000181.2:p.Cys247TyrfsTer3
NM_001024382.1:c.689_690del NP_001019553.1:p.Cys230TyrfsTer3
NM_001258208.1:c.652-266_652-265del NP_001245137.1:n.652-266_652-265del
NM_001258209.1:c.601-266_601-265del NP_001245138.1:n.601-266_601-265del
XM_005271531.1:c.689_690del XP_005271588.1:p.Cys230TyrfsTer3
XM_005271532.1:c.689_690del XP_005271589.1:p.Cys230TyrfsTer3
XM_005271533.2:c.686_687del XP_005271590.1:p.Cys229TyrfsTer3
XM_011542796.1:c.575_576del XP_011541098.1:p.Cys192TyrfsTer3
NM_000190.4:c.740_741del MANE Select NP_000181.2:p.Cys247TyrfsTer3
NM_001024382.2:c.689_690del NP_001019553.1:p.Cys230TyrfsTer3
XM_005271533.3:c.686_687del XP_005271590.1:p.Cys229TyrfsTer3
XM_017017629.1:c.689_690del XP_016873118.1:p.Cys230TyrfsTer3
XM_024448460.1:c.598-266_598-265del XP_024304228.1:n.598-266_598-265del
NM_001258208.2:c.652-266_652-265del NP_001245137.1:n.652-266_652-265del
NM_001258209.2:c.601-266_601-265del NP_001245138.1:n.601-266_601-265del