Canonical Allele Identifier: CA217115449
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869352
ClinVar RCV Id: RCV001078422 RCV001269760
dbSNP Id: rs34548294
MyVariant Identifiers: chr11:g.5248221_5248222insA (hg19) chr11:g.5226991_5226992insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226992dup , CM000673.2:g.5226992dup GRCh38
NC_000011.9:g.5248222dup , CM000673.1:g.5248222dup GRCh37
NC_000011.8:g.5204798dup NCBI36
NG_000007.3:g.70624dup
NG_059281.1:g.5080dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.30dup ENSP00000494175.1:p.Ala11CysfsTer13
ENST00000335295.4:c.30dup MANE Select ENSP00000333994.3:p.Ala11CysfsTer13
ENST00000380315.2:c.30dup ENSP00000369671.2:p.Ala11CysfsTer13
ENST00000485743.1:n.81dup
ENST00000633227.1:c.30dup ENSP00000488004.1:p.Ala11CysfsTer13
NM_000518.4:c.30dup NP_000509.1:p.Ala11CysfsTer13
NM_000518.5:c.30dup MANE Select NP_000509.1:p.Ala11CysfsTer13
Search 100 bp 5'
Search 100 bp 3'