Canonical Allele Identifier: CA2695215836
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092478_119092479del , CM000673.2:g.119092478_119092479del GRCh38
NC_000011.9:g.118963188_118963189del , CM000673.1:g.118963188_118963189del GRCh37
NC_000011.8:g.118468398_118468399del NCBI36
NG_008093.1:g.12602_12603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.561_562del ENSP00000509288.1:p.Glu187AspfsTer8
ENST00000691144.1:n.2707_2708del
ENST00000691249.1:n.1550_1551del
ENST00000442944.7:c.708_709del ENSP00000392041.3:p.Glu236AspfsTer8
ENST00000536813.6:c.675_676del ENSP00000438726.2:p.Glu225AspfsTer?
ENST00000640813.1:c.536_537del ENSP00000491061.1:p.Arg179ThrfsTer?
ENST00000648026.1:c.620_621del ENSP00000498044.1:p.Arg207ThrfsTer?
ENST00000648374.1:c.675_676del ENSP00000497255.1:p.Glu225AspfsTer8
ENST00000649823.1:n.1183_1184del
ENST00000650101.1:c.657_658del ENSP00000496970.1:p.Glu219AspfsTer8
ENST00000650307.1:n.1552_1553del
ENST00000652429.1:c.726_727del MANE Select ENSP00000498786.1:p.Glu242AspfsTer8
ENST00000278715.7:c.726_727del ENSP00000278715.3:p.Glu242AspfsTer8
ENST00000392841.1:c.675_676del ENSP00000376584.1:p.Glu225AspfsTer8
ENST00000442944.6:c.675_676del ENSP00000392041.2:p.Glu225AspfsTer8
ENST00000537841.5:c.675_676del ENSP00000444730.1:p.Glu225AspfsTer8
ENST00000542044.5:n.1171_1172del
ENST00000542729.5:c.601-280_601-279del ENSP00000443058.1:n.601-280_601-279del
ENST00000543090.5:c.633_634del ENSP00000445429.1:p.Glu211AspfsTer8
ENST00000543543.5:n.1201_1202del
ENST00000544182.1:n.941_942del
ENST00000544387.5:c.652-280_652-279del ENSP00000438424.1:n.652-280_652-279del
ENST00000545621.5:c.*861_*862del ENSP00000444849.1:n.*861_*862del
ENST00000546226.5:n.1254_1255del
NM_000190.3:c.726_727del NP_000181.2:p.Glu242AspfsTer8
NM_001024382.1:c.675_676del NP_001019553.1:p.Glu225AspfsTer8
NM_001258208.1:c.652-280_652-279del NP_001245137.1:n.652-280_652-279del
NM_001258209.1:c.601-280_601-279del NP_001245138.1:n.601-280_601-279del
XM_005271531.1:c.675_676del XP_005271588.1:p.Glu225AspfsTer8
XM_005271532.1:c.675_676del XP_005271589.1:p.Glu225AspfsTer8
XM_005271533.2:c.672_673del XP_005271590.1:p.Glu224AspfsTer8
XM_011542796.1:c.561_562del XP_011541098.1:p.Glu187AspfsTer8
NM_000190.4:c.726_727del MANE Select NP_000181.2:p.Glu242AspfsTer8
NM_001024382.2:c.675_676del NP_001019553.1:p.Glu225AspfsTer8
XM_005271533.3:c.672_673del XP_005271590.1:p.Glu224AspfsTer8
XM_017017629.1:c.675_676del XP_016873118.1:p.Glu225AspfsTer8
XM_024448460.1:c.598-280_598-279del XP_024304228.1:n.598-280_598-279del
NM_001258208.2:c.652-280_652-279del NP_001245137.1:n.652-280_652-279del
NM_001258209.2:c.601-280_601-279del NP_001245138.1:n.601-280_601-279del