Canonical Allele Identifier: CA2695215738
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093008_119093009delinsTGCCTGCATCTG , CM000673.2:g.119093008_119093009delinsTGCCTGCATCTG GRCh38
NC_000011.9:g.118963718_118963719delinsTGCCTGCATCTG , CM000673.1:g.118963718_118963719delinsTGCCTGCATCTG GRCh37
NC_000011.8:g.118468928_118468929delinsTGCCTGCATCTG NCBI36
NG_008093.1:g.13132_13133delinsTGCCTGCATCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.734_735delinsTGCCTGCATCTG ENSP00000509288.1:p.His245LeufsTer10
ENST00000691144.1:n.3114_3115delinsTGCCTGCATCTG
ENST00000691249.1:n.1723_1724delinsTGCCTGCATCTG
ENST00000442944.7:c.881_882delinsTGCCTGCATCTG ENSP00000392041.3:p.His294LeufsTer10
ENST00000640813.1:c.*136_*137delinsTGCCTGCATCTG ENSP00000491061.1:n.*136_*137delinsTGCCTGCATCTG
ENST00000648026.1:c.793_794delinsTGCCTGCATCTG ENSP00000498044.1:n.793_794delinsTGCCTGCATCTG
ENST00000648374.1:c.848_849delinsTGCCTGCATCTG ENSP00000497255.1:p.His283LeufsTer10
ENST00000650101.1:c.830_831delinsTGCCTGCATCTG ENSP00000496970.1:p.His277LeufsTer10
ENST00000650307.1:n.1725_1726delinsTGCCTGCATCTG
ENST00000652429.1:c.899_900delinsTGCCTGCATCTG MANE Select ENSP00000498786.1:p.His300LeufsTer10
ENST00000278715.7:c.899_900delinsTGCCTGCATCTG ENSP00000278715.3:p.His300LeufsTer10
ENST00000392841.1:c.848_849delinsTGCCTGCATCTG ENSP00000376584.1:p.His283LeufsTer10
ENST00000442944.6:c.848_849delinsTGCCTGCATCTG ENSP00000392041.2:p.His283LeufsTer10
ENST00000537841.5:c.848_849delinsTGCCTGCATCTG ENSP00000444730.1:p.His283LeufsTer10
ENST00000539045.1:n.398_399delinsTGCCTGCATCTG
ENST00000542044.5:n.1344_1345delinsTGCCTGCATCTG
ENST00000542729.5:c.728_729delinsTGCCTGCATCTG ENSP00000443058.1:p.His243LeufsTer10
ENST00000543090.5:c.806_807delinsTGCCTGCATCTG ENSP00000445429.1:p.His269LeufsTer10
ENST00000543543.5:n.1374_1375delinsTGCCTGCATCTG
ENST00000544182.1:n.1348_1349delinsTGCCTGCATCTG
ENST00000544387.5:c.779_780delinsTGCCTGCATCTG ENSP00000438424.1:p.His260LeufsTer10
ENST00000546226.5:n.1661_1662delinsTGCCTGCATCTG
NM_000190.3:c.899_900delinsTGCCTGCATCTG NP_000181.2:p.His300LeufsTer10
NM_001024382.1:c.848_849delinsTGCCTGCATCTG NP_001019553.1:p.His283LeufsTer10
NM_001258208.1:c.779_780delinsTGCCTGCATCTG NP_001245137.1:p.His260LeufsTer10
NM_001258209.1:c.728_729delinsTGCCTGCATCTG NP_001245138.1:p.His243LeufsTer10
XM_005271531.1:c.848_849delinsTGCCTGCATCTG XP_005271588.1:p.His283LeufsTer10
XM_005271532.1:c.848_849delinsTGCCTGCATCTG XP_005271589.1:p.His283LeufsTer10
XM_005271533.2:c.845_846delinsTGCCTGCATCTG XP_005271590.1:p.His282LeufsTer10
XM_011542796.1:c.734_735delinsTGCCTGCATCTG XP_011541098.1:p.His245LeufsTer10
NM_000190.4:c.899_900delinsTGCCTGCATCTG MANE Select NP_000181.2:p.His300LeufsTer10
NM_001024382.2:c.848_849delinsTGCCTGCATCTG NP_001019553.1:p.His283LeufsTer10
XM_005271533.3:c.845_846delinsTGCCTGCATCTG XP_005271590.1:p.His282LeufsTer10
XM_017017629.1:c.848_849delinsTGCCTGCATCTG XP_016873118.1:p.His283LeufsTer10
XM_024448460.1:c.725_726delinsTGCCTGCATCTG XP_024304228.1:p.His242LeufsTer10
NM_001258208.2:c.779_780delinsTGCCTGCATCTG NP_001245137.1:p.His260LeufsTer10
NM_001258209.2:c.728_729delinsTGCCTGCATCTG NP_001245138.1:p.His243LeufsTer10