Canonical Allele Identifier: CA2695215754

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093147dup , CM000673.2:g.119093147dup	GRCh38
NC_000011.9:g.118963857dup , CM000673.1:g.118963857dup	GRCh37
NC_000011.8:g.118469067dup	NCBI36
NG_008093.1:g.13271dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.785dup	ENSP00000509288.1:p.Ile263HisfsTer5
ENST00000691144.1:n.3165dup
ENST00000691249.1:n.1774dup
ENST00000442944.7:c.932dup	ENSP00000392041.3:p.Ile312HisfsTer5
ENST00000640813.1:c.*187dup	ENSP00000491061.1:n.*187dup
ENST00000648026.1:c.844dup	ENSP00000498044.1:n.844dup
ENST00000648374.1:c.899dup	ENSP00000497255.1:p.Ile301HisfsTer5
ENST00000650101.1:c.881dup	ENSP00000496970.1:p.Ile295HisfsTer5
ENST00000650307.1:n.1776dup
ENST00000652429.1:c.950dup MANE Select	ENSP00000498786.1:p.Ile318HisfsTer5
ENST00000278715.7:c.950dup	ENSP00000278715.3:p.Ile318HisfsTer5
ENST00000392841.1:c.899dup	ENSP00000376584.1:p.Ile301HisfsTer5
ENST00000442944.6:c.899dup	ENSP00000392041.2:p.Ile301HisfsTer5
ENST00000537841.5:c.899dup	ENSP00000444730.1:p.Ile301HisfsTer5
ENST00000539045.1:n.449dup
ENST00000542044.5:n.1395dup
ENST00000542729.5:c.779dup	ENSP00000443058.1:p.Ile261HisfsTer5
ENST00000543090.5:c.857dup	ENSP00000445429.1:p.Ile287HisfsTer5
ENST00000543543.5:n.1425dup
ENST00000544182.1:n.1399dup
ENST00000544387.5:c.830dup	ENSP00000438424.1:p.Ile278HisfsTer5
ENST00000546226.5:n.1712dup
NM_000190.3:c.950dup	NP_000181.2:p.Ile318HisfsTer5
NM_001024382.1:c.899dup	NP_001019553.1:p.Ile301HisfsTer5
NM_001258208.1:c.830dup	NP_001245137.1:p.Ile278HisfsTer5
NM_001258209.1:c.779dup	NP_001245138.1:p.Ile261HisfsTer5
XM_005271531.1:c.899dup	XP_005271588.1:p.Ile301HisfsTer5
XM_005271532.1:c.899dup	XP_005271589.1:p.Ile301HisfsTer5
XM_005271533.2:c.896dup	XP_005271590.1:p.Ile300HisfsTer5
XM_011542796.1:c.785dup	XP_011541098.1:p.Ile263HisfsTer5
NM_000190.4:c.950dup MANE Select	NP_000181.2:p.Ile318HisfsTer5
NM_001024382.2:c.899dup	NP_001019553.1:p.Ile301HisfsTer5
XM_005271533.3:c.896dup	XP_005271590.1:p.Ile300HisfsTer5
XM_017017629.1:c.899dup	XP_016873118.1:p.Ile301HisfsTer5
XM_024448460.1:c.776dup	XP_024304228.1:p.Ile260HisfsTer5
NM_001258208.2:c.830dup	NP_001245137.1:p.Ile278HisfsTer5
NM_001258209.2:c.779dup	NP_001245138.1:p.Ile261HisfsTer5