Canonical Allele Identifier: CA677552785
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1104307
ClinVar RCV Id: RCV001428329
dbSNP Id: rs1251286087
gnomAD v3: 11-5226061-GA-G
gnomAD v4: 11-5226061-GA-G
MyVariant Identifiers: chr11:g.5247292del (hg19) chr11:g.5226062del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226064del , CM000673.2:g.5226064del GRCh38
NC_000011.9:g.5247294del , CM000673.1:g.5247294del GRCh37
NC_000011.8:g.5203870del NCBI36
NG_000007.3:g.71554del
NG_059281.1:g.6010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-336del ENSP00000494175.1:n.316-336del
ENST00000335295.4:c.316-336del MANE Select ENSP00000333994.3:n.316-336del
ENST00000475226.1:n.248-336del
ENST00000633227.1:c.*132-336del ENSP00000488004.1:n.*132-336del
NM_000518.4:c.316-336del NP_000509.1:n.316-336del
NM_000518.5:c.316-336del MANE Select NP_000509.1:n.316-336del
Search 100 bp 5'
Search 100 bp 3'