Canonical Allele Identifier: CA915947802

Gene: HMBS

Linked Data

• ClinVar Variation Id: 641071
• ClinVar RCV Id: RCV000794226
• dbSNP Id: rs1592219635

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092468del , CM000673.2:g.119092468del	GRCh38
NC_000011.9:g.118963178del , CM000673.1:g.118963178del	GRCh37
NC_000011.8:g.118468388del	NCBI36
NG_008093.1:g.12592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.551del	ENSP00000509288.1:p.His184ProfsTer16
ENST00000691144.1:n.2697del
ENST00000691249.1:n.1540del
ENST00000442944.7:c.698del	ENSP00000392041.3:p.His233ProfsTer16
ENST00000536813.6:c.665del	ENSP00000438726.2:p.His222ProfsTer?
ENST00000640813.1:c.526del	ENSP00000491061.1:p.Thr176ArgfsTer11
ENST00000648026.1:c.610del	ENSP00000498044.1:p.Thr204ArgfsTer11
ENST00000648374.1:c.665del	ENSP00000497255.1:p.His222ProfsTer16
ENST00000649823.1:n.1173del
ENST00000650101.1:c.647del	ENSP00000496970.1:p.His216ProfsTer16
ENST00000650307.1:n.1542del
ENST00000652429.1:c.716del MANE Select	ENSP00000498786.1:p.His239ProfsTer16
ENST00000278715.7:c.716del	ENSP00000278715.3:p.His239ProfsTer16
ENST00000392841.1:c.665del	ENSP00000376584.1:p.His222ProfsTer16
ENST00000442944.6:c.665del	ENSP00000392041.2:p.His222ProfsTer16
ENST00000537841.5:c.665del	ENSP00000444730.1:p.His222ProfsTer16
ENST00000542044.5:n.1161del
ENST00000542729.5:c.601-290del	ENSP00000443058.1:n.601-290del
ENST00000543090.5:c.623del	ENSP00000445429.1:p.His208ProfsTer16
ENST00000543543.5:n.1191del
ENST00000544182.1:n.931del
ENST00000544387.5:c.652-290del	ENSP00000438424.1:n.652-290del
ENST00000545621.5:c.*851del	ENSP00000444849.1:n.*851del
ENST00000546226.5:n.1244del
NM_000190.3:c.716del	NP_000181.2:p.His239ProfsTer16
NM_001024382.1:c.665del	NP_001019553.1:p.His222ProfsTer16
NM_001258208.1:c.652-290del	NP_001245137.1:n.652-290del
NM_001258209.1:c.601-290del	NP_001245138.1:n.601-290del
XM_005271531.1:c.665del	XP_005271588.1:p.His222ProfsTer16
XM_005271532.1:c.665del	XP_005271589.1:p.His222ProfsTer16
XM_005271533.2:c.662del	XP_005271590.1:p.His221ProfsTer16
XM_011542796.1:c.551del	XP_011541098.1:p.His184ProfsTer16
NM_000190.4:c.716del MANE Select	NP_000181.2:p.His239ProfsTer16
NM_001024382.2:c.665del	NP_001019553.1:p.His222ProfsTer16
XM_005271533.3:c.662del	XP_005271590.1:p.His221ProfsTer16
XM_017017629.1:c.665del	XP_016873118.1:p.His222ProfsTer16
XM_024448460.1:c.598-290del	XP_024304228.1:n.598-290del
NM_001258208.2:c.652-290del	NP_001245137.1:n.652-290del
NM_001258209.2:c.601-290del	NP_001245138.1:n.601-290del