Canonical Allele Identifier: CA2695215841
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092493_119092500dup , CM000673.2:g.119092493_119092500dup GRCh38
NC_000011.9:g.118963203_118963210dup , CM000673.1:g.118963203_118963210dup GRCh37
NC_000011.8:g.118468413_118468420dup NCBI36
NG_008093.1:g.12617_12624dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.576_583dup ENSP00000509288.1:p.Glu195AlafsTer8
ENST00000691144.1:n.2722_2729dup
ENST00000691249.1:n.1565_1572dup
ENST00000442944.7:c.723_730dup ENSP00000392041.3:p.Glu244AlafsTer8
ENST00000640813.1:c.551_558dup ENSP00000491061.1:p.Lys187HisfsTer3
ENST00000648026.1:c.635_642dup ENSP00000498044.1:p.Lys215HisfsTer3
ENST00000648374.1:c.690_697dup ENSP00000497255.1:p.Glu233AlafsTer8
ENST00000649823.1:n.1198_1205dup
ENST00000650101.1:c.672_679dup ENSP00000496970.1:p.Glu227AlafsTer8
ENST00000650307.1:n.1567_1574dup
ENST00000652429.1:c.741_748dup MANE Select ENSP00000498786.1:p.Glu250AlafsTer8
ENST00000278715.7:c.741_748dup ENSP00000278715.3:p.Glu250AlafsTer8
ENST00000392841.1:c.690_697dup ENSP00000376584.1:p.Glu233AlafsTer8
ENST00000442944.6:c.690_697dup ENSP00000392041.2:p.Glu233AlafsTer8
ENST00000537841.5:c.690_697dup ENSP00000444730.1:p.Glu233AlafsTer8
ENST00000542044.5:n.1186_1193dup
ENST00000542729.5:c.601-265_601-258dup ENSP00000443058.1:n.601-265_601-258dup
ENST00000543090.5:c.648_655dup ENSP00000445429.1:p.Glu219AlafsTer8
ENST00000543543.5:n.1216_1223dup
ENST00000544182.1:n.956_963dup
ENST00000544387.5:c.652-265_652-258dup ENSP00000438424.1:n.652-265_652-258dup
ENST00000546226.5:n.1269_1276dup
NM_000190.3:c.741_748dup NP_000181.2:p.Glu250AlafsTer8
NM_001024382.1:c.690_697dup NP_001019553.1:p.Glu233AlafsTer8
NM_001258208.1:c.652-265_652-258dup NP_001245137.1:n.652-265_652-258dup
NM_001258209.1:c.601-265_601-258dup NP_001245138.1:n.601-265_601-258dup
XM_005271531.1:c.690_697dup XP_005271588.1:p.Glu233AlafsTer8
XM_005271532.1:c.690_697dup XP_005271589.1:p.Glu233AlafsTer8
XM_005271533.2:c.687_694dup XP_005271590.1:p.Glu232AlafsTer8
XM_011542796.1:c.576_583dup XP_011541098.1:p.Glu195AlafsTer8
NM_000190.4:c.741_748dup MANE Select NP_000181.2:p.Glu250AlafsTer8
NM_001024382.2:c.690_697dup NP_001019553.1:p.Glu233AlafsTer8
XM_005271533.3:c.687_694dup XP_005271590.1:p.Glu232AlafsTer8
XM_017017629.1:c.690_697dup XP_016873118.1:p.Glu233AlafsTer8
XM_024448460.1:c.598-265_598-258dup XP_024304228.1:n.598-265_598-258dup
NM_001258208.2:c.652-265_652-258dup NP_001245137.1:n.652-265_652-258dup
NM_001258209.2:c.601-265_601-258dup NP_001245138.1:n.601-265_601-258dup