Canonical Allele Identifier: CA2695215838
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092480del , CM000673.2:g.119092480del GRCh38
NC_000011.9:g.118963190del , CM000673.1:g.118963190del GRCh37
NC_000011.8:g.118468400del NCBI36
NG_008093.1:g.12604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.563del ENSP00000509288.1:p.Thr188IlefsTer12
ENST00000691144.1:n.2709del
ENST00000691249.1:n.1552del
ENST00000442944.7:c.710del ENSP00000392041.3:p.Thr237IlefsTer12
ENST00000536813.6:c.677del ENSP00000438726.2:p.Thr226IlefsTer?
ENST00000640813.1:c.538del ENSP00000491061.1:p.Leu180SerfsTer7
ENST00000648026.1:c.622del ENSP00000498044.1:p.Leu208SerfsTer7
ENST00000648374.1:c.677del ENSP00000497255.1:p.Thr226IlefsTer12
ENST00000649823.1:n.1185del
ENST00000650101.1:c.659del ENSP00000496970.1:p.Thr220IlefsTer12
ENST00000650307.1:n.1554del
ENST00000652429.1:c.728del MANE Select ENSP00000498786.1:p.Thr243IlefsTer12
ENST00000278715.7:c.728del ENSP00000278715.3:p.Thr243IlefsTer12
ENST00000392841.1:c.677del ENSP00000376584.1:p.Thr226IlefsTer12
ENST00000442944.6:c.677del ENSP00000392041.2:p.Thr226IlefsTer12
ENST00000537841.5:c.677del ENSP00000444730.1:p.Thr226IlefsTer12
ENST00000542044.5:n.1173del
ENST00000542729.5:c.601-278del ENSP00000443058.1:n.601-278del
ENST00000543090.5:c.635del ENSP00000445429.1:p.Thr212IlefsTer12
ENST00000543543.5:n.1203del
ENST00000544182.1:n.943del
ENST00000544387.5:c.652-278del ENSP00000438424.1:n.652-278del
ENST00000545621.5:c.*863del ENSP00000444849.1:n.*863del
ENST00000546226.5:n.1256del
NM_000190.3:c.728del NP_000181.2:p.Thr243IlefsTer12
NM_001024382.1:c.677del NP_001019553.1:p.Thr226IlefsTer12
NM_001258208.1:c.652-278del NP_001245137.1:n.652-278del
NM_001258209.1:c.601-278del NP_001245138.1:n.601-278del
XM_005271531.1:c.677del XP_005271588.1:p.Thr226IlefsTer12
XM_005271532.1:c.677del XP_005271589.1:p.Thr226IlefsTer12
XM_005271533.2:c.674del XP_005271590.1:p.Thr225IlefsTer12
XM_011542796.1:c.563del XP_011541098.1:p.Thr188IlefsTer12
NM_000190.4:c.728del MANE Select NP_000181.2:p.Thr243IlefsTer12
NM_001024382.2:c.677del NP_001019553.1:p.Thr226IlefsTer12
XM_005271533.3:c.674del XP_005271590.1:p.Thr225IlefsTer12
XM_017017629.1:c.677del XP_016873118.1:p.Thr226IlefsTer12
XM_024448460.1:c.598-278del XP_024304228.1:n.598-278del
NM_001258208.2:c.652-278del NP_001245137.1:n.652-278del
NM_001258209.2:c.601-278del NP_001245138.1:n.601-278del