Canonical Allele Identifier: CA658822513
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 551389
dbSNP Id: rs1554918165
MyVariant Identifiers: chr11:g.5226958dup (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226959dup , CM000673.2:g.5226959dup GRCh38
NC_000011.9:g.5248189dup , CM000673.1:g.5248189dup GRCh37
NC_000011.8:g.5204765dup NCBI36
NG_000007.3:g.70658dup
NG_059281.1:g.5114dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.64dup ENSP00000494175.1:p.Asp22GlyfsTer2
ENST00000335295.4:c.64dup MANE Select ENSP00000333994.3:p.Asp22GlyfsTer2
ENST00000380315.2:c.64dup ENSP00000369671.2:p.Asp22GlyfsTer2
ENST00000485743.1:n.115dup
ENST00000633227.1:c.64dup ENSP00000488004.1:p.Asp22GlyfsTer2
NM_000518.4:c.64dup NP_000509.1:p.Asp22GlyfsTer2
NM_000518.5:c.64dup MANE Select NP_000509.1:p.Asp22GlyfsTer2