Canonical Allele Identifier: CA217112414
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869312
ClinVar RCV Id: RCV001078373
dbSNP Id: rs281864531
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225647dup , CM000673.2:g.5225647dup GRCh38
NC_000011.9:g.5246877dup , CM000673.1:g.5246877dup GRCh37
NC_000011.8:g.5203453dup NCBI36
NG_000007.3:g.71969dup
NG_059281.1:g.6425dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.395dup ENSP00000494175.1:p.Lys133GlufsTer8
ENST00000335295.4:c.395dup MANE Select ENSP00000333994.3:p.Lys133GlufsTer8
ENST00000633227.1:c.*211dup ENSP00000488004.1:n.*211dup
NM_000518.4:c.395dup NP_000509.1:p.Lys133GlufsTer8
NM_000518.5:c.395dup MANE Select NP_000509.1:p.Lys133GlufsTer8
Search 100 bp 5'
Search 100 bp 3'