Canonical Allele Identifier: CA2695215711
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119088704dup , CM000673.2:g.119088704dup GRCh38
NC_000011.9:g.118959414dup , CM000673.1:g.118959414dup GRCh37
NC_000011.8:g.118464624dup NCBI36
NG_008093.1:g.8828dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.-9dup ENSP00000509288.1:n.-9dup
ENST00000686690.1:n.319dup
ENST00000691144.1:n.1439dup
ENST00000691249.1:n.741dup
ENST00000442944.7:c.157dup ENSP00000392041.3:p.Ile53AsnfsTer7
ENST00000534956.2:n.106dup
ENST00000536813.6:c.106dup ENSP00000438726.2:p.Ile36AsnfsTer13
ENST00000546302.6:c.157dup ENSP00000445599.1:p.Ile53AsnfsTer13
ENST00000640813.1:c.106dup ENSP00000491061.1:p.Ile36AsnfsTer13
ENST00000648026.1:c.151dup ENSP00000498044.1:p.Ile51AsnfsTer13
ENST00000648374.1:c.106dup ENSP00000497255.1:p.Ile36AsnfsTer13
ENST00000648488.1:c.106dup ENSP00000498079.1:p.Ile36AsnfsTer13
ENST00000649823.1:n.374dup
ENST00000649868.1:c.34-396dup ENSP00000497548.1:n.34-396dup
ENST00000650101.1:c.106dup ENSP00000496970.1:p.Ile36AsnfsTer7
ENST00000650307.1:n.609dup
ENST00000652429.1:c.157dup MANE Select ENSP00000498786.1:p.Ile53AsnfsTer13
ENST00000278715.7:c.157dup ENSP00000278715.3:p.Ile53AsnfsTer13
ENST00000392841.1:c.106dup ENSP00000376584.1:p.Ile36AsnfsTer13
ENST00000442944.6:c.106dup ENSP00000392041.2:p.Ile36AsnfsTer13
ENST00000534956.1:n.73dup
ENST00000535253.5:c.106dup ENSP00000442079.1:p.Ile36AsnfsTer13
ENST00000535793.5:c.103dup ENSP00000439904.1:p.Ile35AsnfsTer3
ENST00000536185.5:n.325dup
ENST00000536813.5:c.157dup ENSP00000438726.1:p.Ile53AsnfsTer7
ENST00000537841.5:c.106dup ENSP00000444730.1:p.Ile36AsnfsTer13
ENST00000539986.5:c.106dup ENSP00000440092.1:p.Ile36AsnfsTer13
ENST00000542044.5:n.228dup
ENST00000542345.5:n.295dup
ENST00000542729.5:c.106dup ENSP00000443058.1:p.Ile36AsnfsTer13
ENST00000542822.5:c.*2dup ENSP00000444817.1:n.*2dup
ENST00000543090.5:c.103dup ENSP00000445429.1:p.Ile35AsnfsTer13
ENST00000543543.5:n.392dup
ENST00000543821.5:n.303dup
ENST00000544360.5:n.125dup
ENST00000544387.5:c.157dup ENSP00000438424.1:p.Ile53AsnfsTer13
ENST00000545621.5:c.157dup ENSP00000444849.1:p.Ile53AsnfsTer3
ENST00000545901.5:n.310dup
ENST00000546226.5:n.216dup
ENST00000546302.5:c.157dup ENSP00000445599.1:p.Ile53AsnfsTer13
NM_000190.3:c.157dup NP_000181.2:p.Ile53AsnfsTer13
NM_001024382.1:c.106dup NP_001019553.1:p.Ile36AsnfsTer13
NM_001258208.1:c.157dup NP_001245137.1:p.Ile53AsnfsTer13
NM_001258209.1:c.106dup NP_001245138.1:p.Ile36AsnfsTer13
XM_005271531.1:c.106dup XP_005271588.1:p.Ile36AsnfsTer13
XM_005271532.1:c.106dup XP_005271589.1:p.Ile36AsnfsTer13
XM_005271533.2:c.103dup XP_005271590.1:p.Ile35AsnfsTer13
XM_011542796.1:c.-9dup XP_011541098.1:n.-9dup
NM_000190.4:c.157dup MANE Select NP_000181.2:p.Ile53AsnfsTer13
NM_001024382.2:c.106dup NP_001019553.1:p.Ile36AsnfsTer13
XM_005271533.3:c.103dup XP_005271590.1:p.Ile35AsnfsTer13
XM_017017629.1:c.106dup XP_016873118.1:p.Ile36AsnfsTer13
XM_024448460.1:c.103dup XP_024304228.1:p.Ile35AsnfsTer13
NM_001258208.2:c.157dup NP_001245137.1:p.Ile53AsnfsTer13
NM_001258209.2:c.106dup NP_001245138.1:p.Ile36AsnfsTer13