Canonical Allele Identifier: CA2580083652
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2137266
ClinVar RCV Id: RCV003062466

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092522dup , CM000673.2:g.119092522dup GRCh38
NC_000011.9:g.118963232dup , CM000673.1:g.118963232dup GRCh37
NC_000011.8:g.118468442dup NCBI36
NG_008093.1:g.12646dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.605dup ENSP00000509288.1:p.Glu203GlyfsTer?
ENST00000691144.1:n.2751dup
ENST00000691249.1:n.1594dup
ENST00000442944.7:c.752dup ENSP00000392041.3:p.Glu252GlyfsTer?
ENST00000640813.1:c.*7dup ENSP00000491061.1:n.*7dup
ENST00000648026.1:c.664dup ENSP00000498044.1:n.664dup
ENST00000648374.1:c.719dup ENSP00000497255.1:p.Glu241GlyfsTer?
ENST00000649823.1:n.1227dup
ENST00000650101.1:c.701dup ENSP00000496970.1:p.Glu235GlyfsTer?
ENST00000650307.1:n.1596dup
ENST00000652429.1:c.770dup MANE Select ENSP00000498786.1:p.Glu258GlyfsTer?
ENST00000278715.7:c.770dup ENSP00000278715.3:p.Glu258GlyfsTer?
ENST00000392841.1:c.719dup ENSP00000376584.1:p.Glu241GlyfsTer?
ENST00000442944.6:c.719dup ENSP00000392041.2:p.Glu241GlyfsTer?
ENST00000537841.5:c.719dup ENSP00000444730.1:p.Glu241GlyfsTer?
ENST00000542044.5:n.1215dup
ENST00000542729.5:c.601-236dup ENSP00000443058.1:n.601-236dup
ENST00000543090.5:c.677dup ENSP00000445429.1:p.Glu227GlyfsTer?
ENST00000543543.5:n.1245dup
ENST00000544182.1:n.985dup
ENST00000544387.5:c.652-236dup ENSP00000438424.1:n.652-236dup
ENST00000546226.5:n.1298dup
NM_000190.3:c.770dup NP_000181.2:p.Glu258GlyfsTer?
NM_001024382.1:c.719dup NP_001019553.1:p.Glu241GlyfsTer?
NM_001258208.1:c.652-236dup NP_001245137.1:n.652-236dup
NM_001258209.1:c.601-236dup NP_001245138.1:n.601-236dup
XM_005271531.1:c.719dup XP_005271588.1:p.Glu241GlyfsTer?
XM_005271532.1:c.719dup XP_005271589.1:p.Glu241GlyfsTer?
XM_005271533.2:c.716dup XP_005271590.1:p.Glu240GlyfsTer?
XM_011542796.1:c.605dup XP_011541098.1:p.Glu203GlyfsTer?
NM_000190.4:c.770dup MANE Select NP_000181.2:p.Glu258GlyfsTer?
NM_001024382.2:c.719dup NP_001019553.1:p.Glu241GlyfsTer?
XM_005271533.3:c.716dup XP_005271590.1:p.Glu240GlyfsTer?
XM_017017629.1:c.719dup XP_016873118.1:p.Glu241GlyfsTer?
XM_024448460.1:c.598-236dup XP_024304228.1:n.598-236dup
NM_001258208.2:c.652-236dup NP_001245137.1:n.652-236dup
NM_001258209.2:c.601-236dup NP_001245138.1:n.601-236dup