Canonical Allele Identifier: CA2499220802

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1070047
• ClinVar RCV Id: RCV001382069
• dbSNP Id: rs2134885669

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093160dup , CM000673.2:g.119093160dup	GRCh38
NC_000011.9:g.118963870dup , CM000673.1:g.118963870dup	GRCh37
NC_000011.8:g.118469080dup	NCBI36
NG_008093.1:g.13284dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.798dup	ENSP00000509288.1:p.Asn267Ter
ENST00000691144.1:n.3178dup
ENST00000691249.1:n.1787dup
ENST00000442944.7:c.945dup	ENSP00000392041.3:p.Asn316Ter
ENST00000640813.1:c.*200dup	ENSP00000491061.1:n.*200dup
ENST00000648026.1:c.857dup	ENSP00000498044.1:n.857dup
ENST00000648374.1:c.912dup	ENSP00000497255.1:p.Asn305Ter
ENST00000650101.1:c.894dup	ENSP00000496970.1:p.Asn299Ter
ENST00000650307.1:n.1789dup
ENST00000652429.1:c.963dup MANE Select	ENSP00000498786.1:p.Asn322Ter
ENST00000278715.7:c.963dup	ENSP00000278715.3:p.Asn322Ter
ENST00000392841.1:c.912dup	ENSP00000376584.1:p.Asn305Ter
ENST00000442944.6:c.912dup	ENSP00000392041.2:p.Asn305Ter
ENST00000537841.5:c.912dup	ENSP00000444730.1:p.Asn305Ter
ENST00000539045.1:n.462dup
ENST00000542044.5:n.1408dup
ENST00000542729.5:c.792dup	ENSP00000443058.1:p.Asn265Ter
ENST00000543090.5:c.870dup	ENSP00000445429.1:p.Asn291Ter
ENST00000543543.5:n.1438dup
ENST00000544182.1:n.1412dup
ENST00000544387.5:c.843dup	ENSP00000438424.1:p.Asn282Ter
ENST00000546226.5:n.1725dup
NM_000190.3:c.963dup	NP_000181.2:p.Asn322Ter
NM_001024382.1:c.912dup	NP_001019553.1:p.Asn305Ter
NM_001258208.1:c.843dup	NP_001245137.1:p.Asn282Ter
NM_001258209.1:c.792dup	NP_001245138.1:p.Asn265Ter
XM_005271531.1:c.912dup	XP_005271588.1:p.Asn305Ter
XM_005271532.1:c.912dup	XP_005271589.1:p.Asn305Ter
XM_005271533.2:c.909dup	XP_005271590.1:p.Asn304Ter
XM_011542796.1:c.798dup	XP_011541098.1:p.Asn267Ter
NM_000190.4:c.963dup MANE Select	NP_000181.2:p.Asn322Ter
NM_001024382.2:c.912dup	NP_001019553.1:p.Asn305Ter
XM_005271533.3:c.909dup	XP_005271590.1:p.Asn304Ter
XM_017017629.1:c.912dup	XP_016873118.1:p.Asn305Ter
XM_024448460.1:c.789dup	XP_024304228.1:p.Asn264Ter
NM_001258208.2:c.843dup	NP_001245137.1:p.Asn282Ter
NM_001258209.2:c.792dup	NP_001245138.1:p.Asn265Ter