Canonical Allele Identifier: CA5839704
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869234
ClinVar RCV Id: RCV001078267
dbSNP Id: rs63750692
ExAC: 11:5246956 GC / G
gnomAD v2: 11-5246956-GC-G
gnomAD v4: 11-5225726-GC-G
MyVariant Identifiers: chr11:g.5246957del (hg19) chr11:g.5225727del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225727del , CM000673.2:g.5225727del GRCh38
NC_000011.9:g.5246957del , CM000673.1:g.5246957del GRCh37
NC_000011.8:g.5203533del NCBI36
NG_000007.3:g.71889del
NG_059281.1:g.6345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-1del ENSP00000494175.1:n.316-1del
ENST00000335295.4:c.316-1del MANE Select ENSP00000333994.3:n.316-1del
ENST00000475226.1:n.248-1del
ENST00000633227.1:c.*132-1del ENSP00000488004.1:n.*132-1del
NM_000518.4:c.316-1del NP_000509.1:n.316-1del
NM_000518.5:c.316-1del MANE Select NP_000509.1:n.316-1del
Search 100 bp 5'
Search 100 bp 3'