Canonical Allele Identifier: CA2695215819
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092158_119092159insA , CM000673.2:g.119092158_119092159insA GRCh38
NC_000011.9:g.118962868_118962869insA , CM000673.1:g.118962868_118962869insA GRCh37
NC_000011.8:g.118468078_118468079insA NCBI36
NG_008093.1:g.12282_12283insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.481_482insA ENSP00000509288.1:p.Gly161GlufsTer?
ENST00000691144.1:n.2387_2388insA
ENST00000691249.1:n.1230_1231insA
ENST00000442944.7:c.628_629insA ENSP00000392041.3:p.Gly210GlufsTer?
ENST00000536813.6:c.595_596insA ENSP00000438726.2:p.Gly199GlufsTer?
ENST00000546302.6:c.568_569insA ENSP00000445599.1:p.Gly190GlufsTer?
ENST00000640813.1:c.462-246_462-245insA ENSP00000491061.1:n.462-246_462-245insA
ENST00000648026.1:c.540_541insA ENSP00000498044.1:p.Ala181SerfsTer?
ENST00000648374.1:c.595_596insA ENSP00000497255.1:p.Gly199GlufsTer?
ENST00000648488.1:c.*119_*120insA ENSP00000498079.1:n.*119_*120insA
ENST00000649823.1:n.863_864insA
ENST00000650101.1:c.577_578insA ENSP00000496970.1:p.Gly193GlufsTer?
ENST00000650307.1:n.1472_1473insA
ENST00000652429.1:c.646_647insA MANE Select ENSP00000498786.1:p.Gly216GlufsTer?
ENST00000278715.7:c.646_647insA ENSP00000278715.3:p.Gly216GlufsTer?
ENST00000392841.1:c.595_596insA ENSP00000376584.1:p.Gly199GlufsTer?
ENST00000442944.6:c.595_596insA ENSP00000392041.2:p.Gly199GlufsTer?
ENST00000537841.5:c.595_596insA ENSP00000444730.1:p.Gly199GlufsTer?
ENST00000542044.5:n.1091_1092insA
ENST00000542345.5:n.784_785insA
ENST00000542729.5:c.595_596insA ENSP00000443058.1:p.Gly199GlufsTer?
ENST00000543090.5:c.559-246_559-245insA ENSP00000445429.1:n.559-246_559-245insA
ENST00000543543.5:n.881_882insA
ENST00000544182.1:n.621_622insA
ENST00000544387.5:c.646_647insA ENSP00000438424.1:p.Gly216GlufsTer?
ENST00000545621.5:c.*541_*542insA ENSP00000444849.1:n.*541_*542insA
ENST00000546226.5:n.934_935insA
ENST00000546302.5:c.568_569insA ENSP00000445599.1:p.Gly190GlufsTer?
NM_000190.3:c.646_647insA NP_000181.2:p.Gly216GlufsTer?
NM_001024382.1:c.595_596insA NP_001019553.1:p.Gly199GlufsTer?
NM_001258208.1:c.646_647insA NP_001245137.1:p.Gly216GlufsTer?
NM_001258209.1:c.595_596insA NP_001245138.1:p.Gly199GlufsTer?
XM_005271531.1:c.595_596insA XP_005271588.1:p.Gly199GlufsTer?
XM_005271532.1:c.595_596insA XP_005271589.1:p.Gly199GlufsTer?
XM_005271533.2:c.592_593insA XP_005271590.1:p.Gly198GlufsTer?
XM_011542796.1:c.481_482insA XP_011541098.1:p.Gly161GlufsTer?
NM_000190.4:c.646_647insA MANE Select NP_000181.2:p.Gly216GlufsTer?
NM_001024382.2:c.595_596insA NP_001019553.1:p.Gly199GlufsTer?
XM_005271533.3:c.592_593insA XP_005271590.1:p.Gly198GlufsTer?
XM_017017629.1:c.595_596insA XP_016873118.1:p.Gly199GlufsTer?
XM_024448460.1:c.592_593insA XP_024304228.1:p.Gly198GlufsTer?
NM_001258208.2:c.646_647insA NP_001245137.1:p.Gly216GlufsTer?
NM_001258209.2:c.595_596insA NP_001245138.1:p.Gly199GlufsTer?