Canonical Allele Identifier: CA217113701
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869303
ClinVar RCV Id: RCV001078362
dbSNP Id: rs34831847
MyVariant Identifiers: chr11:g.5247863_5247864insA (hg19) chr11:g.5226633_5226634insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226636dup , CM000673.2:g.5226636dup GRCh38
NC_000011.9:g.5247866dup , CM000673.1:g.5247866dup GRCh37
NC_000011.8:g.5204442dup NCBI36
NG_000007.3:g.70982dup
NG_059281.1:g.5438dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.258dup ENSP00000494175.1:p.Ala87CysfsTer5
ENST00000335295.4:c.258dup MANE Select ENSP00000333994.3:p.Ala87CysfsTer5
ENST00000380315.2:c.258dup ENSP00000369671.2:p.Ala87CysfsTer5
ENST00000475226.1:n.190dup
ENST00000485743.1:n.309dup
ENST00000633227.1:c.*74dup ENSP00000488004.1:n.*74dup
NM_000518.4:c.258dup NP_000509.1:p.Ala87CysfsTer5
NM_000518.5:c.258dup MANE Select NP_000509.1:p.Ala87CysfsTer5
Search 100 bp 5'
Search 100 bp 3'