Canonical Allele Identifier: CA210558
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 439153

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225721dup , CM000673.2:g.5225721dup GRCh38
NC_000011.8:g.5203527dup NCBI36
NC_000011.9:g.5246951dup , CM000673.1:g.5246951dup GRCh37
NG_000007.3:g.71897dup

Transcript Alleles

HGVS Amino-acid change
ENST00000335295.4:c.323dup ENSP00000333994.3:p.Asn109GlnfsTer?
ENST00000475226.1:n.255dup
ENST00000633227.1:c.*139dup ENSP00000488004.1:p.=
NM_000518.4:c.323dup VV NP_000509.1:p.Asn109GlnfsTer?