Canonical Allele Identifier: CA2695215842
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092501_119092517dup , CM000673.2:g.119092501_119092517dup GRCh38
NC_000011.9:g.118963211_118963227dup , CM000673.1:g.118963211_118963227dup GRCh37
NC_000011.8:g.118468421_118468437dup NCBI36
NG_008093.1:g.12625_12641dup

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.584_600dup ENSP00000509288.1:p.His201LysfsTer5
ENST00000691144.1:n.2730_2746dup
ENST00000691249.1:n.1573_1589dup
ENST00000442944.7:c.731_747dup ENSP00000392041.3:p.His250LysfsTer5
ENST00000640813.1:c.559_*2dup ENSP00000491061.1:n.559_*2dup
ENST00000648026.1:c.643_659dup ENSP00000498044.1:n.643_659dup
ENST00000648374.1:c.698_714dup ENSP00000497255.1:p.His239LysfsTer5
ENST00000649823.1:n.1206_1222dup
ENST00000650101.1:c.680_696dup ENSP00000496970.1:p.His233LysfsTer5
ENST00000650307.1:n.1575_1591dup
ENST00000652429.1:c.749_765dup MANE Select ENSP00000498786.1:p.His256LysfsTer5
ENST00000278715.7:c.749_765dup ENSP00000278715.3:p.His256LysfsTer5
ENST00000392841.1:c.698_714dup ENSP00000376584.1:p.His239LysfsTer5
ENST00000442944.6:c.698_714dup ENSP00000392041.2:p.His239LysfsTer5
ENST00000537841.5:c.698_714dup ENSP00000444730.1:p.His239LysfsTer5
ENST00000542044.5:n.1194_1210dup
ENST00000542729.5:c.601-257_601-241dup ENSP00000443058.1:n.601-257_601-241dup
ENST00000543090.5:c.656_672dup ENSP00000445429.1:p.His225LysfsTer5
ENST00000543543.5:n.1224_1240dup
ENST00000544182.1:n.964_980dup
ENST00000544387.5:c.652-257_652-241dup ENSP00000438424.1:n.652-257_652-241dup
ENST00000546226.5:n.1277_1293dup
NM_000190.3:c.749_765dup NP_000181.2:p.His256LysfsTer5
NM_001024382.1:c.698_714dup NP_001019553.1:p.His239LysfsTer5
NM_001258208.1:c.652-257_652-241dup NP_001245137.1:n.652-257_652-241dup
NM_001258209.1:c.601-257_601-241dup NP_001245138.1:n.601-257_601-241dup
XM_005271531.1:c.698_714dup XP_005271588.1:p.His239LysfsTer5
XM_005271532.1:c.698_714dup XP_005271589.1:p.His239LysfsTer5
XM_005271533.2:c.695_711dup XP_005271590.1:p.His238LysfsTer5
XM_011542796.1:c.584_600dup XP_011541098.1:p.His201LysfsTer5
NM_000190.4:c.749_765dup MANE Select NP_000181.2:p.His256LysfsTer5
NM_001024382.2:c.698_714dup NP_001019553.1:p.His239LysfsTer5
XM_005271533.3:c.695_711dup XP_005271590.1:p.His238LysfsTer5
XM_017017629.1:c.698_714dup XP_016873118.1:p.His239LysfsTer5
XM_024448460.1:c.598-257_598-241dup XP_024304228.1:n.598-257_598-241dup
NM_001258208.2:c.652-257_652-241dup NP_001245137.1:n.652-257_652-241dup
NM_001258209.2:c.601-257_601-241dup NP_001245138.1:n.601-257_601-241dup