Canonical Allele Identifier: CA2695215733

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092983dup , CM000673.2:g.119092983dup	GRCh38
NC_000011.9:g.118963693dup , CM000673.1:g.118963693dup	GRCh37
NC_000011.8:g.118468903dup	NCBI36
NG_008093.1:g.13107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.709dup	ENSP00000509288.1:p.Gln237ProfsTer15
ENST00000691144.1:n.3089dup
ENST00000691249.1:n.1698dup
ENST00000442944.7:c.856dup	ENSP00000392041.3:p.Gln286ProfsTer15
ENST00000640813.1:c.*111dup	ENSP00000491061.1:n.*111dup
ENST00000648026.1:c.768dup	ENSP00000498044.1:n.768dup
ENST00000648374.1:c.823dup	ENSP00000497255.1:p.Gln275ProfsTer15
ENST00000650101.1:c.805dup	ENSP00000496970.1:p.Gln269ProfsTer15
ENST00000650307.1:n.1700dup
ENST00000652429.1:c.874dup MANE Select	ENSP00000498786.1:p.Gln292ProfsTer15
ENST00000278715.7:c.874dup	ENSP00000278715.3:p.Gln292ProfsTer15
ENST00000392841.1:c.823dup	ENSP00000376584.1:p.Gln275ProfsTer15
ENST00000442944.6:c.823dup	ENSP00000392041.2:p.Gln275ProfsTer15
ENST00000537841.5:c.823dup	ENSP00000444730.1:p.Gln275ProfsTer15
ENST00000539045.1:n.373dup
ENST00000542044.5:n.1319dup
ENST00000542729.5:c.703dup	ENSP00000443058.1:p.Gln235ProfsTer15
ENST00000543090.5:c.781dup	ENSP00000445429.1:p.Gln261ProfsTer15
ENST00000543543.5:n.1349dup
ENST00000544182.1:n.1323dup
ENST00000544387.5:c.754dup	ENSP00000438424.1:p.Gln252ProfsTer15
ENST00000546226.5:n.1636dup
NM_000190.3:c.874dup	NP_000181.2:p.Gln292ProfsTer15
NM_001024382.1:c.823dup	NP_001019553.1:p.Gln275ProfsTer15
NM_001258208.1:c.754dup	NP_001245137.1:p.Gln252ProfsTer15
NM_001258209.1:c.703dup	NP_001245138.1:p.Gln235ProfsTer15
XM_005271531.1:c.823dup	XP_005271588.1:p.Gln275ProfsTer15
XM_005271532.1:c.823dup	XP_005271589.1:p.Gln275ProfsTer15
XM_005271533.2:c.820dup	XP_005271590.1:p.Gln274ProfsTer15
XM_011542796.1:c.709dup	XP_011541098.1:p.Gln237ProfsTer15
NM_000190.4:c.874dup MANE Select	NP_000181.2:p.Gln292ProfsTer15
NM_001024382.2:c.823dup	NP_001019553.1:p.Gln275ProfsTer15
XM_005271533.3:c.820dup	XP_005271590.1:p.Gln274ProfsTer15
XM_017017629.1:c.823dup	XP_016873118.1:p.Gln275ProfsTer15
XM_024448460.1:c.700dup	XP_024304228.1:p.Gln234ProfsTer15
NM_001258208.2:c.754dup	NP_001245137.1:p.Gln252ProfsTer15
NM_001258209.2:c.703dup	NP_001245138.1:p.Gln235ProfsTer15