Canonical Allele Identifier: CA2695215834
Gene: HMBS HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.550dup ENSP00000509288.1:p.His184ProfsTer12
ENST00000691144.1:n.2696dup
ENST00000691249.1:n.1539dup
ENST00000442944.7:c.697dup ENSP00000392041.3:p.His233ProfsTer12
ENST00000536813.6:c.664dup ENSP00000438726.2:p.His222ProfsTer?
ENST00000640813.1:c.525dup ENSP00000491061.1:p.Thr176HisfsTer?
ENST00000648026.1:c.609dup ENSP00000498044.1:p.Thr204HisfsTer?
ENST00000648374.1:c.664dup ENSP00000497255.1:p.His222ProfsTer12
ENST00000649823.1:n.1172dup
ENST00000650101.1:c.646dup ENSP00000496970.1:p.His216ProfsTer12
ENST00000650307.1:n.1541dup
ENST00000652429.1:c.715dup MANE Select ENSP00000498786.1:p.His239ProfsTer12
ENST00000278715.7:c.715dup ENSP00000278715.3:p.His239ProfsTer12
ENST00000392841.1:c.664dup ENSP00000376584.1:p.His222ProfsTer12
ENST00000442944.6:c.664dup ENSP00000392041.2:p.His222ProfsTer12
ENST00000537841.5:c.664dup ENSP00000444730.1:p.His222ProfsTer12
ENST00000542044.5:n.1160dup
ENST00000542729.5:c.601-291dup ENSP00000443058.1:n.601-291dup
ENST00000543090.5:c.622dup ENSP00000445429.1:p.His208ProfsTer12
ENST00000543543.5:n.1190dup
ENST00000544182.1:n.930dup
ENST00000544387.5:c.652-291dup ENSP00000438424.1:n.652-291dup
ENST00000545621.5:c.*850dup ENSP00000444849.1:n.*850dup
ENST00000546226.5:n.1243dup
NM_000190.3:c.715dup NP_000181.2:p.His239ProfsTer12
NM_001024382.1:c.664dup NP_001019553.1:p.His222ProfsTer12
NM_001258208.1:c.652-291dup NP_001245137.1:n.652-291dup
NM_001258209.1:c.601-291dup NP_001245138.1:n.601-291dup
XM_005271531.1:c.664dup XP_005271588.1:p.His222ProfsTer12
XM_005271532.1:c.664dup XP_005271589.1:p.His222ProfsTer12
XM_005271533.2:c.661dup XP_005271590.1:p.His221ProfsTer12
XM_011542796.1:c.550dup XP_011541098.1:p.His184ProfsTer12
NM_000190.4:c.715dup MANE Select NP_000181.2:p.His239ProfsTer12
NM_001024382.2:c.664dup NP_001019553.1:p.His222ProfsTer12
XM_005271533.3:c.661dup XP_005271590.1:p.His221ProfsTer12
XM_017017629.1:c.664dup XP_016873118.1:p.His222ProfsTer12
XM_024448460.1:c.598-291dup XP_024304228.1:n.598-291dup
NM_001258208.2:c.652-291dup NP_001245137.1:n.652-291dup
NM_001258209.2:c.601-291dup NP_001245138.1:n.601-291dup