Canonical Allele Identifier: CA2695215844
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092512del , CM000673.2:g.119092512del GRCh38
NC_000011.9:g.118963222del , CM000673.1:g.118963222del GRCh37
NC_000011.8:g.118468432del NCBI36
NG_008093.1:g.12636del

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.595del ENSP00000509288.1:p.Leu199Ter
ENST00000691144.1:n.2741del
ENST00000691249.1:n.1584del
ENST00000442944.7:c.742del ENSP00000392041.3:p.Leu248Ter
ENST00000640813.1:c.570del ENSP00000491061.1:p.Ter191GluextTer?
ENST00000648026.1:c.654del ENSP00000498044.1:p.Ter219GluextTer?
ENST00000648374.1:c.709del ENSP00000497255.1:p.Leu237Ter
ENST00000649823.1:n.1217del
ENST00000650101.1:c.691del ENSP00000496970.1:p.Leu231Ter
ENST00000650307.1:n.1586del
ENST00000652429.1:c.760del MANE Select ENSP00000498786.1:p.Leu254Ter
ENST00000278715.7:c.760del ENSP00000278715.3:p.Leu254Ter
ENST00000392841.1:c.709del ENSP00000376584.1:p.Leu237Ter
ENST00000442944.6:c.709del ENSP00000392041.2:p.Leu237Ter
ENST00000537841.5:c.709del ENSP00000444730.1:p.Leu237Ter
ENST00000542044.5:n.1205del
ENST00000542729.5:c.601-246del ENSP00000443058.1:n.601-246del
ENST00000543090.5:c.667del ENSP00000445429.1:p.Leu223Ter
ENST00000543543.5:n.1235del
ENST00000544182.1:n.975del
ENST00000544387.5:c.652-246del ENSP00000438424.1:n.652-246del
ENST00000546226.5:n.1288del
NM_000190.3:c.760del NP_000181.2:p.Leu254Ter
NM_001024382.1:c.709del NP_001019553.1:p.Leu237Ter
NM_001258208.1:c.652-246del NP_001245137.1:n.652-246del
NM_001258209.1:c.601-246del NP_001245138.1:n.601-246del
XM_005271531.1:c.709del XP_005271588.1:p.Leu237Ter
XM_005271532.1:c.709del XP_005271589.1:p.Leu237Ter
XM_005271533.2:c.706del XP_005271590.1:p.Leu236Ter
XM_011542796.1:c.595del XP_011541098.1:p.Leu199Ter
NM_000190.4:c.760del MANE Select NP_000181.2:p.Leu254Ter
NM_001024382.2:c.709del NP_001019553.1:p.Leu237Ter
XM_005271533.3:c.706del XP_005271590.1:p.Leu236Ter
XM_017017629.1:c.709del XP_016873118.1:p.Leu237Ter
XM_024448460.1:c.598-246del XP_024304228.1:n.598-246del
NM_001258208.2:c.652-246del NP_001245137.1:n.652-246del
NM_001258209.2:c.601-246del NP_001245138.1:n.601-246del