Canonical Allele Identifier: CA2739271776
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2835560
ClinVar RCV Id: RCV003687211

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092468_119092469dup , CM000673.2:g.119092468_119092469dup GRCh38
NC_000011.9:g.118963178_118963179dup , CM000673.1:g.118963178_118963179dup GRCh37
NC_000011.8:g.118468388_118468389dup NCBI36
NG_008093.1:g.12592_12593dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.551_552dup ENSP00000509288.1:p.Asp185ThrfsTer16
ENST00000691144.1:n.2697_2698dup
ENST00000691249.1:n.1540_1541dup
ENST00000442944.7:c.698_699dup ENSP00000392041.3:p.Asp234ThrfsTer16
ENST00000536813.6:c.665_666dup ENSP00000438726.2:p.Asp223ThrfsTer?
ENST00000640813.1:c.526_527dup ENSP00000491061.1:p.Ile177ArgfsTer11
ENST00000648026.1:c.610_611dup ENSP00000498044.1:p.Ile205ArgfsTer11
ENST00000648374.1:c.665_666dup ENSP00000497255.1:p.Asp223ThrfsTer16
ENST00000649823.1:n.1173_1174dup
ENST00000650101.1:c.647_648dup ENSP00000496970.1:p.Asp217ThrfsTer16
ENST00000650307.1:n.1542_1543dup
ENST00000652429.1:c.716_717dup MANE Select ENSP00000498786.1:p.Asp240ThrfsTer16
ENST00000278715.7:c.716_717dup ENSP00000278715.3:p.Asp240ThrfsTer16
ENST00000392841.1:c.665_666dup ENSP00000376584.1:p.Asp223ThrfsTer16
ENST00000442944.6:c.665_666dup ENSP00000392041.2:p.Asp223ThrfsTer16
ENST00000537841.5:c.665_666dup ENSP00000444730.1:p.Asp223ThrfsTer16
ENST00000542044.5:n.1161_1162dup
ENST00000542729.5:c.601-290_601-289dup ENSP00000443058.1:n.601-290_601-289dup
ENST00000543090.5:c.623_624dup ENSP00000445429.1:p.Asp209ThrfsTer16
ENST00000543543.5:n.1191_1192dup
ENST00000544182.1:n.931_932dup
ENST00000544387.5:c.652-290_652-289dup ENSP00000438424.1:n.652-290_652-289dup
ENST00000545621.5:c.*851_*852dup ENSP00000444849.1:n.*851_*852dup
ENST00000546226.5:n.1244_1245dup
NM_000190.3:c.716_717dup NP_000181.2:p.Asp240ThrfsTer16
NM_001024382.1:c.665_666dup NP_001019553.1:p.Asp223ThrfsTer16
NM_001258208.1:c.652-290_652-289dup NP_001245137.1:n.652-290_652-289dup
NM_001258209.1:c.601-290_601-289dup NP_001245138.1:n.601-290_601-289dup
XM_005271531.1:c.665_666dup XP_005271588.1:p.Asp223ThrfsTer16
XM_005271532.1:c.665_666dup XP_005271589.1:p.Asp223ThrfsTer16
XM_005271533.2:c.662_663dup XP_005271590.1:p.Asp222ThrfsTer16
XM_011542796.1:c.551_552dup XP_011541098.1:p.Asp185ThrfsTer16
NM_000190.4:c.716_717dup MANE Select NP_000181.2:p.Asp240ThrfsTer16
NM_001024382.2:c.665_666dup NP_001019553.1:p.Asp223ThrfsTer16
XM_005271533.3:c.662_663dup XP_005271590.1:p.Asp222ThrfsTer16
XM_017017629.1:c.665_666dup XP_016873118.1:p.Asp223ThrfsTer16
XM_024448460.1:c.598-290_598-289dup XP_024304228.1:n.598-290_598-289dup
NM_001258208.2:c.652-290_652-289dup NP_001245137.1:n.652-290_652-289dup
NM_001258209.2:c.601-290_601-289dup NP_001245138.1:n.601-290_601-289dup