Canonical Allele Identifier: CA217112441
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs369582912
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225653dup , CM000673.2:g.5225653dup GRCh38
NC_000011.9:g.5246883dup , CM000673.1:g.5246883dup GRCh37
NC_000011.8:g.5203459dup NCBI36
NG_000007.3:g.71964dup
NG_059281.1:g.6420dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.390dup ENSP00000494175.1:p.Tyr131LeufsTer10
ENST00000335295.4:c.390dup MANE Select ENSP00000333994.3:p.Tyr131LeufsTer10
ENST00000633227.1:c.*206dup ENSP00000488004.1:n.*206dup
NM_000518.4:c.390dup NP_000509.1:p.Tyr131LeufsTer10
NM_000518.5:c.390dup MANE Select NP_000509.1:p.Tyr131LeufsTer10
Search 100 bp 5'
Search 100 bp 3'