Canonical Allele Identifier: CA2580083654

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2030525
• ClinVar RCV Id: RCV002871824

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092988dup , CM000673.2:g.119092988dup	GRCh38
NC_000011.9:g.118963698dup , CM000673.1:g.118963698dup	GRCh37
NC_000011.8:g.118468908dup	NCBI36
NG_008093.1:g.13112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.714dup	ENSP00000509288.1:p.Thr239AspfsTer13
ENST00000691144.1:n.3094dup
ENST00000691249.1:n.1703dup
ENST00000442944.7:c.861dup	ENSP00000392041.3:p.Thr288AspfsTer13
ENST00000640813.1:c.*116dup	ENSP00000491061.1:n.*116dup
ENST00000648026.1:c.773dup	ENSP00000498044.1:n.773dup
ENST00000648374.1:c.828dup	ENSP00000497255.1:p.Thr277AspfsTer13
ENST00000650101.1:c.810dup	ENSP00000496970.1:p.Thr271AspfsTer13
ENST00000650307.1:n.1705dup
ENST00000652429.1:c.879dup MANE Select	ENSP00000498786.1:p.Thr294AspfsTer13
ENST00000278715.7:c.879dup	ENSP00000278715.3:p.Thr294AspfsTer13
ENST00000392841.1:c.828dup	ENSP00000376584.1:p.Thr277AspfsTer13
ENST00000442944.6:c.828dup	ENSP00000392041.2:p.Thr277AspfsTer13
ENST00000537841.5:c.828dup	ENSP00000444730.1:p.Thr277AspfsTer13
ENST00000539045.1:n.378dup
ENST00000542044.5:n.1324dup
ENST00000542729.5:c.708dup	ENSP00000443058.1:p.Thr237AspfsTer13
ENST00000543090.5:c.786dup	ENSP00000445429.1:p.Thr263AspfsTer13
ENST00000543543.5:n.1354dup
ENST00000544182.1:n.1328dup
ENST00000544387.5:c.759dup	ENSP00000438424.1:p.Thr254AspfsTer13
ENST00000546226.5:n.1641dup
NM_000190.3:c.879dup	NP_000181.2:p.Thr294AspfsTer13
NM_001024382.1:c.828dup	NP_001019553.1:p.Thr277AspfsTer13
NM_001258208.1:c.759dup	NP_001245137.1:p.Thr254AspfsTer13
NM_001258209.1:c.708dup	NP_001245138.1:p.Thr237AspfsTer13
XM_005271531.1:c.828dup	XP_005271588.1:p.Thr277AspfsTer13
XM_005271532.1:c.828dup	XP_005271589.1:p.Thr277AspfsTer13
XM_005271533.2:c.825dup	XP_005271590.1:p.Thr276AspfsTer13
XM_011542796.1:c.714dup	XP_011541098.1:p.Thr239AspfsTer13
NM_000190.4:c.879dup MANE Select	NP_000181.2:p.Thr294AspfsTer13
NM_001024382.2:c.828dup	NP_001019553.1:p.Thr277AspfsTer13
XM_005271533.3:c.825dup	XP_005271590.1:p.Thr276AspfsTer13
XM_017017629.1:c.828dup	XP_016873118.1:p.Thr277AspfsTer13
XM_024448460.1:c.705dup	XP_024304228.1:p.Thr236AspfsTer13
NM_001258208.2:c.759dup	NP_001245137.1:p.Thr254AspfsTer13
NM_001258209.2:c.708dup	NP_001245138.1:p.Thr237AspfsTer13