Canonical Allele Identifier: CA2695215833
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092467_119092477del , CM000673.2:g.119092467_119092477del GRCh38
NC_000011.9:g.118963177_118963187del , CM000673.1:g.118963177_118963187del GRCh37
NC_000011.8:g.118468387_118468397del NCBI36
NG_008093.1:g.12591_12601del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.550_560del ENSP00000509288.1:p.His184AspfsTer8
ENST00000691144.1:n.2696_2706del
ENST00000691249.1:n.1539_1549del
ENST00000442944.7:c.697_707del ENSP00000392041.3:p.His233AspfsTer8
ENST00000536813.6:c.664_674del ENSP00000438726.2:p.His222AspfsTer?
ENST00000640813.1:c.525_535del ENSP00000491061.1:p.Cys175TrpfsTer?
ENST00000648026.1:c.609_619del ENSP00000498044.1:p.Cys203TrpfsTer?
ENST00000648374.1:c.664_674del ENSP00000497255.1:p.His222AspfsTer8
ENST00000649823.1:n.1172_1182del
ENST00000650101.1:c.646_656del ENSP00000496970.1:p.His216AspfsTer8
ENST00000650307.1:n.1541_1551del
ENST00000652429.1:c.715_725del MANE Select ENSP00000498786.1:p.His239AspfsTer8
ENST00000278715.7:c.715_725del ENSP00000278715.3:p.His239AspfsTer8
ENST00000392841.1:c.664_674del ENSP00000376584.1:p.His222AspfsTer8
ENST00000442944.6:c.664_674del ENSP00000392041.2:p.His222AspfsTer8
ENST00000537841.5:c.664_674del ENSP00000444730.1:p.His222AspfsTer8
ENST00000542044.5:n.1160_1170del
ENST00000542729.5:c.601-291_601-281del ENSP00000443058.1:n.601-291_601-281del
ENST00000543090.5:c.622_632del ENSP00000445429.1:p.His208AspfsTer8
ENST00000543543.5:n.1190_1200del
ENST00000544182.1:n.930_940del
ENST00000544387.5:c.652-291_652-281del ENSP00000438424.1:n.652-291_652-281del
ENST00000545621.5:c.*850_*860del ENSP00000444849.1:n.*850_*860del
ENST00000546226.5:n.1243_1253del
NM_000190.3:c.715_725del NP_000181.2:p.His239AspfsTer8
NM_001024382.1:c.664_674del NP_001019553.1:p.His222AspfsTer8
NM_001258208.1:c.652-291_652-281del NP_001245137.1:n.652-291_652-281del
NM_001258209.1:c.601-291_601-281del NP_001245138.1:n.601-291_601-281del
XM_005271531.1:c.664_674del XP_005271588.1:p.His222AspfsTer8
XM_005271532.1:c.664_674del XP_005271589.1:p.His222AspfsTer8
XM_005271533.2:c.661_671del XP_005271590.1:p.His221AspfsTer8
XM_011542796.1:c.550_560del XP_011541098.1:p.His184AspfsTer8
NM_000190.4:c.715_725del MANE Select NP_000181.2:p.His239AspfsTer8
NM_001024382.2:c.664_674del NP_001019553.1:p.His222AspfsTer8
XM_005271533.3:c.661_671del XP_005271590.1:p.His221AspfsTer8
XM_017017629.1:c.664_674del XP_016873118.1:p.His222AspfsTer8
XM_024448460.1:c.598-291_598-281del XP_024304228.1:n.598-291_598-281del
NM_001258208.2:c.652-291_652-281del NP_001245137.1:n.652-291_652-281del
NM_001258209.2:c.601-291_601-281del NP_001245138.1:n.601-291_601-281del