Canonical Allele Identifier: CA2841359118
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092707del , CM000673.2:g.119092707del GRCh38
NC_000011.9:g.118963417del , CM000673.1:g.118963417del GRCh37
NC_000011.8:g.118468627del NCBI36
NG_008093.1:g.12831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.607-51del ENSP00000509288.1:n.607-51del
ENST00000691144.1:n.2936del
ENST00000691249.1:n.1596-51del
ENST00000442944.7:c.754-51del ENSP00000392041.3:n.754-51del
ENST00000640813.1:c.*9-51del ENSP00000491061.1:n.*9-51del
ENST00000648026.1:c.666-51del ENSP00000498044.1:n.666-51del
ENST00000648374.1:c.721-51del ENSP00000497255.1:n.721-51del
ENST00000649823.1:n.1229-51del
ENST00000650101.1:c.703-51del ENSP00000496970.1:n.703-51del
ENST00000650307.1:n.1598-51del
ENST00000652429.1:c.772-51del MANE Select ENSP00000498786.1:n.772-51del
ENST00000278715.7:c.772-51del ENSP00000278715.3:n.772-51del
ENST00000392841.1:c.721-51del ENSP00000376584.1:n.721-51del
ENST00000442944.6:c.721-51del ENSP00000392041.2:n.721-51del
ENST00000537841.5:c.721-51del ENSP00000444730.1:n.721-51del
ENST00000539045.1:n.97del
ENST00000542044.5:n.1217-51del
ENST00000542729.5:c.601-51del ENSP00000443058.1:n.601-51del
ENST00000543090.5:c.679-51del ENSP00000445429.1:n.679-51del
ENST00000543543.5:n.1247-51del
ENST00000544182.1:n.1170del
ENST00000544387.5:c.652-51del ENSP00000438424.1:n.652-51del
ENST00000546226.5:n.1483del
NM_000190.3:c.772-51del NP_000181.2:n.772-51del
NM_001024382.1:c.721-51del NP_001019553.1:n.721-51del
NM_001258208.1:c.652-51del NP_001245137.1:n.652-51del
NM_001258209.1:c.601-51del NP_001245138.1:n.601-51del
XM_005271531.1:c.721-51del XP_005271588.1:n.721-51del
XM_005271532.1:c.721-51del XP_005271589.1:n.721-51del
XM_005271533.2:c.718-51del XP_005271590.1:n.718-51del
XM_011542796.1:c.607-51del XP_011541098.1:n.607-51del
NM_000190.4:c.772-51del MANE Select NP_000181.2:n.772-51del
NM_001024382.2:c.721-51del NP_001019553.1:n.721-51del
XM_005271533.3:c.718-51del XP_005271590.1:n.718-51del
XM_017017629.1:c.721-51del XP_016873118.1:n.721-51del
XM_024448460.1:c.598-51del XP_024304228.1:n.598-51del
NM_001258208.2:c.652-51del NP_001245137.1:n.652-51del
NM_001258209.2:c.601-51del NP_001245138.1:n.601-51del