Canonical Allele Identifier: CA2838291690
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092414del , CM000673.2:g.119092414del GRCh38
NC_000011.9:g.118963124del , CM000673.1:g.118963124del GRCh37
NC_000011.8:g.118468334del NCBI36
NG_008093.1:g.12538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.497del ENSP00000509288.1:p.Gly166AlafsTer?
ENST00000691144.1:n.2643del
ENST00000691249.1:n.1486del
ENST00000442944.7:c.644del ENSP00000392041.3:p.Gly215AlafsTer?
ENST00000536813.6:c.611del ENSP00000438726.2:p.Gly204AlafsTer?
ENST00000640813.1:c.472del ENSP00000491061.1:p.Ala158ArgfsTer29
ENST00000648026.1:c.556del ENSP00000498044.1:p.Ala186ArgfsTer29
ENST00000648374.1:c.611del ENSP00000497255.1:p.Gly204AlafsTer?
ENST00000649823.1:n.1119del
ENST00000650101.1:c.593del ENSP00000496970.1:p.Gly198AlafsTer?
ENST00000650307.1:n.1488del
ENST00000652429.1:c.662del MANE Select ENSP00000498786.1:p.Gly221AlafsTer?
ENST00000278715.7:c.662del ENSP00000278715.3:p.Gly221AlafsTer?
ENST00000392841.1:c.611del ENSP00000376584.1:p.Gly204AlafsTer?
ENST00000442944.6:c.611del ENSP00000392041.2:p.Gly204AlafsTer?
ENST00000537841.5:c.611del ENSP00000444730.1:p.Gly204AlafsTer?
ENST00000542044.5:n.1107del
ENST00000542729.5:c.600+251del ENSP00000443058.1:n.600+251del
ENST00000543090.5:c.569del ENSP00000445429.1:p.Gly190AlafsTer?
ENST00000543543.5:n.1137del
ENST00000544182.1:n.877del
ENST00000544387.5:c.651+251del ENSP00000438424.1:n.651+251del
ENST00000545621.5:c.*797del ENSP00000444849.1:n.*797del
ENST00000546226.5:n.1190del
NM_000190.3:c.662del NP_000181.2:p.Gly221AlafsTer?
NM_001024382.1:c.611del NP_001019553.1:p.Gly204AlafsTer?
NM_001258208.1:c.651+251del NP_001245137.1:n.651+251del
NM_001258209.1:c.600+251del NP_001245138.1:n.600+251del
XM_005271531.1:c.611del XP_005271588.1:p.Gly204AlafsTer?
XM_005271532.1:c.611del XP_005271589.1:p.Gly204AlafsTer?
XM_005271533.2:c.608del XP_005271590.1:p.Gly203AlafsTer?
XM_011542796.1:c.497del XP_011541098.1:p.Gly166AlafsTer?
NM_000190.4:c.662del MANE Select NP_000181.2:p.Gly221AlafsTer?
NM_001024382.2:c.611del NP_001019553.1:p.Gly204AlafsTer?
XM_005271533.3:c.608del XP_005271590.1:p.Gly203AlafsTer?
XM_017017629.1:c.611del XP_016873118.1:p.Gly204AlafsTer?
XM_024448460.1:c.597+251del XP_024304228.1:n.597+251del
NM_001258208.2:c.651+251del NP_001245137.1:n.651+251del
NM_001258209.2:c.600+251del NP_001245138.1:n.600+251del