Canonical Allele Identifier: CA2695215814
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092145_119092148del , CM000673.2:g.119092145_119092148del GRCh38
NC_000011.9:g.118962855_118962858del , CM000673.1:g.118962855_118962858del GRCh37
NC_000011.8:g.118468065_118468068del NCBI36
NG_008093.1:g.12269_12272del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.468_471del ENSP00000509288.1:p.Tyr158LeufsTer?
ENST00000691144.1:n.2374_2377del
ENST00000691249.1:n.1217_1220del
ENST00000442944.7:c.615_618del ENSP00000392041.3:p.Tyr207LeufsTer?
ENST00000536813.6:c.582_585del ENSP00000438726.2:p.Tyr196LeufsTer?
ENST00000546302.6:c.555_558del ENSP00000445599.1:p.Tyr187LeufsTer?
ENST00000640813.1:c.462-259_462-256del ENSP00000491061.1:n.462-259_462-256del
ENST00000648026.1:c.527_530del ENSP00000498044.1:p.Ala176ValfsTer?
ENST00000648374.1:c.582_585del ENSP00000497255.1:p.Tyr196LeufsTer?
ENST00000648488.1:c.*106_*109del ENSP00000498079.1:n.*106_*109del
ENST00000649823.1:n.850_853del
ENST00000650101.1:c.564_567del ENSP00000496970.1:p.Tyr190LeufsTer?
ENST00000650307.1:n.1459_1462del
ENST00000652429.1:c.633_636del MANE Select ENSP00000498786.1:p.Tyr213LeufsTer?
ENST00000278715.7:c.633_636del ENSP00000278715.3:p.Tyr213LeufsTer?
ENST00000392841.1:c.582_585del ENSP00000376584.1:p.Tyr196LeufsTer?
ENST00000442944.6:c.582_585del ENSP00000392041.2:p.Tyr196LeufsTer?
ENST00000537841.5:c.582_585del ENSP00000444730.1:p.Tyr196LeufsTer?
ENST00000542044.5:n.1078_1081del
ENST00000542345.5:n.771_774del
ENST00000542729.5:c.582_585del ENSP00000443058.1:p.Tyr196LeufsTer12
ENST00000543090.5:c.559-259_559-256del ENSP00000445429.1:n.559-259_559-256del
ENST00000543543.5:n.868_871del
ENST00000544182.1:n.608_611del
ENST00000544387.5:c.633_636del ENSP00000438424.1:p.Tyr213LeufsTer12
ENST00000545621.5:c.*528_*531del ENSP00000444849.1:n.*528_*531del
ENST00000546226.5:n.921_924del
ENST00000546302.5:c.555_558del ENSP00000445599.1:p.Tyr187LeufsTer?
NM_000190.3:c.633_636del NP_000181.2:p.Tyr213LeufsTer?
NM_001024382.1:c.582_585del NP_001019553.1:p.Tyr196LeufsTer?
NM_001258208.1:c.633_636del NP_001245137.1:p.Tyr213LeufsTer12
NM_001258209.1:c.582_585del NP_001245138.1:p.Tyr196LeufsTer12
XM_005271531.1:c.582_585del XP_005271588.1:p.Tyr196LeufsTer?
XM_005271532.1:c.582_585del XP_005271589.1:p.Tyr196LeufsTer?
XM_005271533.2:c.579_582del XP_005271590.1:p.Tyr195LeufsTer?
XM_011542796.1:c.468_471del XP_011541098.1:p.Tyr158LeufsTer?
NM_000190.4:c.633_636del MANE Select NP_000181.2:p.Tyr213LeufsTer?
NM_001024382.2:c.582_585del NP_001019553.1:p.Tyr196LeufsTer?
XM_005271533.3:c.579_582del XP_005271590.1:p.Tyr195LeufsTer?
XM_017017629.1:c.582_585del XP_016873118.1:p.Tyr196LeufsTer?
XM_024448460.1:c.579_582del XP_024304228.1:p.Tyr195LeufsTer12
NM_001258208.2:c.633_636del NP_001245137.1:p.Tyr213LeufsTer12
NM_001258209.2:c.582_585del NP_001245138.1:p.Tyr196LeufsTer12