Canonical Allele Identifier: CA2573146996
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1458933
ClinVar RCV Id: RCV001958751
dbSNP Id: rs2134876482

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092135del , CM000673.2:g.119092135del GRCh38
NC_000011.9:g.118962845del , CM000673.1:g.118962845del GRCh37
NC_000011.8:g.118468055del NCBI36
NG_008093.1:g.12259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.458del ENSP00000509288.1:p.Pro153LeufsTer?
ENST00000691144.1:n.2364del
ENST00000691249.1:n.1207del
ENST00000442944.7:c.605del ENSP00000392041.3:p.Pro202LeufsTer?
ENST00000536813.6:c.572del ENSP00000438726.2:p.Pro191LeufsTer?
ENST00000546302.6:c.545del ENSP00000445599.1:p.Pro182LeufsTer?
ENST00000640813.1:c.461+261del ENSP00000491061.1:n.461+261del
ENST00000648026.1:c.517del ENSP00000498044.1:p.Leu173Ter
ENST00000648374.1:c.572del ENSP00000497255.1:p.Pro191LeufsTer?
ENST00000648488.1:c.*96del ENSP00000498079.1:n.*96del
ENST00000649823.1:n.840del
ENST00000650101.1:c.554del ENSP00000496970.1:p.Pro185LeufsTer?
ENST00000650307.1:n.1449del
ENST00000652429.1:c.623del MANE Select ENSP00000498786.1:p.Pro208LeufsTer?
ENST00000278715.7:c.623del ENSP00000278715.3:p.Pro208LeufsTer?
ENST00000392841.1:c.572del ENSP00000376584.1:p.Pro191LeufsTer?
ENST00000442944.6:c.572del ENSP00000392041.2:p.Pro191LeufsTer?
ENST00000537841.5:c.572del ENSP00000444730.1:p.Pro191LeufsTer?
ENST00000542044.5:n.1068del
ENST00000542345.5:n.761del
ENST00000542729.5:c.572del ENSP00000443058.1:p.Pro191LeufsTer18
ENST00000543090.5:c.559-269del ENSP00000445429.1:n.559-269del
ENST00000543543.5:n.858del
ENST00000544182.1:n.598del
ENST00000544387.5:c.623del ENSP00000438424.1:p.Pro208LeufsTer18
ENST00000545621.5:c.*518del ENSP00000444849.1:n.*518del
ENST00000546226.5:n.911del
ENST00000546302.5:c.545del ENSP00000445599.1:p.Pro182LeufsTer?
NM_000190.3:c.623del NP_000181.2:p.Pro208LeufsTer?
NM_001024382.1:c.572del NP_001019553.1:p.Pro191LeufsTer?
NM_001258208.1:c.623del NP_001245137.1:p.Pro208LeufsTer18
NM_001258209.1:c.572del NP_001245138.1:p.Pro191LeufsTer18
XM_005271531.1:c.572del XP_005271588.1:p.Pro191LeufsTer?
XM_005271532.1:c.572del XP_005271589.1:p.Pro191LeufsTer?
XM_005271533.2:c.569del XP_005271590.1:p.Pro190LeufsTer?
XM_011542796.1:c.458del XP_011541098.1:p.Pro153LeufsTer?
NM_000190.4:c.623del MANE Select NP_000181.2:p.Pro208LeufsTer?
NM_001024382.2:c.572del NP_001019553.1:p.Pro191LeufsTer?
XM_005271533.3:c.569del XP_005271590.1:p.Pro190LeufsTer?
XM_017017629.1:c.572del XP_016873118.1:p.Pro191LeufsTer?
XM_024448460.1:c.569del XP_024304228.1:p.Pro190LeufsTer18
NM_001258208.2:c.623del NP_001245137.1:p.Pro208LeufsTer18
NM_001258209.2:c.572del NP_001245138.1:p.Pro191LeufsTer18