Canonical Allele Identifier: CA913190125
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1470
ClinVar RCV Id: RCV000001535
dbSNP Id: rs1565757857

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092486_119092493dup , CM000673.2:g.119092486_119092493dup GRCh38
NC_000011.9:g.118963196_118963203dup , CM000673.1:g.118963196_118963203dup GRCh37
NC_000011.8:g.118468406_118468413dup NCBI36
NG_008093.1:g.12610_12617dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.569_576dup ENSP00000509288.1:p.Ile193PhefsTer10
ENST00000691144.1:n.2715_2722dup
ENST00000691249.1:n.1558_1565dup
ENST00000442944.7:c.716_723dup ENSP00000392041.3:p.Ile242PhefsTer10
ENST00000640813.1:c.544_551dup ENSP00000491061.1:p.Lys187HisfsTer3
ENST00000648026.1:c.628_635dup ENSP00000498044.1:p.Lys215HisfsTer3
ENST00000648374.1:c.683_690dup ENSP00000497255.1:p.Ile231PhefsTer10
ENST00000649823.1:n.1191_1198dup
ENST00000650101.1:c.665_672dup ENSP00000496970.1:p.Ile225PhefsTer10
ENST00000650307.1:n.1560_1567dup
ENST00000652429.1:c.734_741dup MANE Select ENSP00000498786.1:p.Ile248PhefsTer10
ENST00000278715.7:c.734_741dup ENSP00000278715.3:p.Ile248PhefsTer10
ENST00000392841.1:c.683_690dup ENSP00000376584.1:p.Ile231PhefsTer10
ENST00000442944.6:c.683_690dup ENSP00000392041.2:p.Ile231PhefsTer10
ENST00000537841.5:c.683_690dup ENSP00000444730.1:p.Ile231PhefsTer10
ENST00000542044.5:n.1179_1186dup
ENST00000542729.5:c.601-272_601-265dup ENSP00000443058.1:n.601-272_601-265dup
ENST00000543090.5:c.641_648dup ENSP00000445429.1:p.Ile217PhefsTer10
ENST00000543543.5:n.1209_1216dup
ENST00000544182.1:n.949_956dup
ENST00000544387.5:c.652-272_652-265dup ENSP00000438424.1:n.652-272_652-265dup
ENST00000545621.5:c.*869_*876dup ENSP00000444849.1:n.*869_*876dup
ENST00000546226.5:n.1262_1269dup
NM_000190.3:c.734_741dup NP_000181.2:p.Ile248PhefsTer10
NM_001024382.1:c.683_690dup NP_001019553.1:p.Ile231PhefsTer10
NM_001258208.1:c.652-272_652-265dup NP_001245137.1:n.652-272_652-265dup
NM_001258209.1:c.601-272_601-265dup NP_001245138.1:n.601-272_601-265dup
XM_005271531.1:c.683_690dup XP_005271588.1:p.Ile231PhefsTer10
XM_005271532.1:c.683_690dup XP_005271589.1:p.Ile231PhefsTer10
XM_005271533.2:c.680_687dup XP_005271590.1:p.Ile230PhefsTer10
XM_011542796.1:c.569_576dup XP_011541098.1:p.Ile193PhefsTer10
NM_000190.4:c.734_741dup MANE Select NP_000181.2:p.Ile248PhefsTer10
NM_001024382.2:c.683_690dup NP_001019553.1:p.Ile231PhefsTer10
XM_005271533.3:c.680_687dup XP_005271590.1:p.Ile230PhefsTer10
XM_017017629.1:c.683_690dup XP_016873118.1:p.Ile231PhefsTer10
XM_024448460.1:c.598-272_598-265dup XP_024304228.1:n.598-272_598-265dup
NM_001258208.2:c.652-272_652-265dup NP_001245137.1:n.652-272_652-265dup
NM_001258209.2:c.601-272_601-265dup NP_001245138.1:n.601-272_601-265dup