Canonical Allele Identifier: CA2003791664
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092479_119092481delinsACT , CM000673.2:g.119092479_119092481delinsACT GRCh38
NC_000011.9:g.118963189_118963191delinsACT , CM000673.1:g.118963189_118963191delinsACT GRCh37
NC_000011.8:g.118468399_118468401delinsACT NCBI36
NG_008093.1:g.12603_12605delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.562_564delinsACT ENSP00000509288.1:p.Thr188=
ENST00000691144.1:n.2708_2710delinsACT
ENST00000691249.1:n.1551_1553delinsACT
ENST00000442944.7:c.709_711delinsACT ENSP00000392041.3:p.Thr237=
ENST00000536813.6:c.676_678delinsACT ENSP00000438726.2:p.Thr226=
ENST00000640813.1:c.537_539delinsACT ENSP00000491061.1:p.Arg179=
ENST00000648026.1:c.621_623delinsACT ENSP00000498044.1:p.Arg207=
ENST00000648374.1:c.676_678delinsACT ENSP00000497255.1:p.Thr226=
ENST00000649823.1:n.1184_1186delinsACT
ENST00000650101.1:c.658_660delinsACT ENSP00000496970.1:p.Thr220=
ENST00000650307.1:n.1553_1555delinsACT
ENST00000652429.1:c.727_729delinsACT MANE Select ENSP00000498786.1:p.Thr243=
ENST00000278715.7:c.727_729delinsACT ENSP00000278715.3:p.Thr243=
ENST00000392841.1:c.676_678delinsACT ENSP00000376584.1:p.Thr226=
ENST00000442944.6:c.676_678delinsACT ENSP00000392041.2:p.Thr226=
ENST00000537841.5:c.676_678delinsACT ENSP00000444730.1:p.Thr226=
ENST00000542044.5:n.1172_1174delinsACT
ENST00000542729.5:c.601-279_601-277delinsACT ENSP00000443058.1:n.601-279_601-277delinsACT
ENST00000543090.5:c.634_636delinsACT ENSP00000445429.1:p.Thr212=
ENST00000543543.5:n.1202_1204delinsACT
ENST00000544182.1:n.942_944delinsACT
ENST00000544387.5:c.652-279_652-277delinsACT ENSP00000438424.1:n.652-279_652-277delinsACT
ENST00000545621.5:c.*862_*864delinsACT ENSP00000444849.1:n.*862_*864delinsACT
ENST00000546226.5:n.1255_1257delinsACT
NM_000190.3:c.727_729delinsACT NP_000181.2:p.Thr243=
NM_001024382.1:c.676_678delinsACT NP_001019553.1:p.Thr226=
NM_001258208.1:c.652-279_652-277delinsACT NP_001245137.1:n.652-279_652-277delinsACT
NM_001258209.1:c.601-279_601-277delinsACT NP_001245138.1:n.601-279_601-277delinsACT
XM_005271531.1:c.676_678delinsACT XP_005271588.1:p.Thr226=
XM_005271532.1:c.676_678delinsACT XP_005271589.1:p.Thr226=
XM_005271533.2:c.673_675delinsACT XP_005271590.1:p.Thr225=
XM_011542796.1:c.562_564delinsACT XP_011541098.1:p.Thr188=
NM_000190.4:c.727_729delinsACT MANE Select NP_000181.2:p.Thr243=
NM_001024382.2:c.676_678delinsACT NP_001019553.1:p.Thr226=
XM_005271533.3:c.673_675delinsACT XP_005271590.1:p.Thr225=
XM_017017629.1:c.676_678delinsACT XP_016873118.1:p.Thr226=
XM_024448460.1:c.598-279_598-277delinsACT XP_024304228.1:n.598-279_598-277delinsACT
NM_001258208.2:c.652-279_652-277delinsACT NP_001245137.1:n.652-279_652-277delinsACT
NM_001258209.2:c.601-279_601-277delinsACT NP_001245138.1:n.601-279_601-277delinsACT