Canonical Allele Identifier: CA2739291580

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093202dup , CM000673.2:g.119093202dup	GRCh38
NC_000011.9:g.118963912dup , CM000673.1:g.118963912dup	GRCh37
NC_000011.8:g.118469122dup	NCBI36
NG_008093.1:g.13326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.840dup	ENSP00000509288.1:p.Ile281HisfsTer23
ENST00000691144.1:n.3220dup
ENST00000691249.1:n.1829dup
ENST00000442944.7:c.987dup	ENSP00000392041.3:p.Ile330HisfsTer23
ENST00000640813.1:c.*242dup	ENSP00000491061.1:n.*242dup
ENST00000648026.1:c.899dup	ENSP00000498044.1:n.899dup
ENST00000648374.1:c.954dup	ENSP00000497255.1:p.Ile319HisfsTer23
ENST00000650101.1:c.936dup	ENSP00000496970.1:p.Ile313HisfsTer23
ENST00000650307.1:n.1831dup
ENST00000652429.1:c.1005dup MANE Select	ENSP00000498786.1:p.Ile336HisfsTer23
ENST00000278715.7:c.1005dup	ENSP00000278715.3:p.Ile336HisfsTer23
ENST00000392841.1:c.954dup	ENSP00000376584.1:p.Ile319HisfsTer23
ENST00000442944.6:c.954dup	ENSP00000392041.2:p.Ile319HisfsTer23
ENST00000537841.5:c.954dup	ENSP00000444730.1:p.Ile319HisfsTer23
ENST00000539045.1:n.504dup
ENST00000542044.5:n.1450dup
ENST00000542729.5:c.834dup	ENSP00000443058.1:p.Ile279HisfsTer23
ENST00000543090.5:c.912dup	ENSP00000445429.1:p.Ile305HisfsTer23
ENST00000543543.5:n.1480dup
ENST00000544182.1:n.1454dup
ENST00000544387.5:c.885dup	ENSP00000438424.1:p.Ile296HisfsTer23
ENST00000546226.5:n.1767dup
NM_000190.3:c.1005dup	NP_000181.2:p.Ile336HisfsTer23
NM_001024382.1:c.954dup	NP_001019553.1:p.Ile319HisfsTer23
NM_001258208.1:c.885dup	NP_001245137.1:p.Ile296HisfsTer23
NM_001258209.1:c.834dup	NP_001245138.1:p.Ile279HisfsTer23
XM_005271531.1:c.954dup	XP_005271588.1:p.Ile319HisfsTer23
XM_005271532.1:c.954dup	XP_005271589.1:p.Ile319HisfsTer23
XM_005271533.2:c.951dup	XP_005271590.1:p.Ile318HisfsTer23
XM_011542796.1:c.840dup	XP_011541098.1:p.Ile281HisfsTer23
NM_000190.4:c.1005dup MANE Select	NP_000181.2:p.Ile336HisfsTer23
NM_001024382.2:c.954dup	NP_001019553.1:p.Ile319HisfsTer23
XM_005271533.3:c.951dup	XP_005271590.1:p.Ile318HisfsTer23
XM_017017629.1:c.954dup	XP_016873118.1:p.Ile319HisfsTer23
XM_024448460.1:c.831dup	XP_024304228.1:p.Ile278HisfsTer23
NM_001258208.2:c.885dup	NP_001245137.1:p.Ile296HisfsTer23
NM_001258209.2:c.834dup	NP_001245138.1:p.Ile279HisfsTer23