Canonical Allele Identifier: CA210558
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439153
ClinVar RCV Id: RCV000016668 RCV000506185 RCV000589491
dbSNP Id: rs35225141
gnomAD v2: 11-5246948-G-GC
gnomAD v3: 11-5225718-G-GC
gnomAD v4: 11-5225718-G-GC
MyVariant Identifiers: chr11:g.5246949dup (hg19) chr11:g.5246948_5246949insC (hg19) chr11:g.5225719dup (hg38) chr11:g.5225718_5225719insC (hg38)
PubMed: PMID:1586746 PMID:1728311 PMID:1897518 PMID:2458145 PMID:3683554 PMID:7632967 PMID:9401495 PMID:12709369 PMID:18294253 PMID:19254853 PMID:20704537 PMID:21119755 PMID:23590658 PMID:27756326
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225721dup , CM000673.2:g.5225721dup GRCh38
NC_000011.9:g.5246951dup , CM000673.1:g.5246951dup GRCh37
NC_000011.8:g.5203527dup NCBI36
NG_000007.3:g.71897dup
NG_059281.1:g.6353dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.323dup ENSP00000494175.1:p.Asn109GlnfsTer?
ENST00000335295.4:c.323dup MANE Select ENSP00000333994.3:p.Asn109GlnfsTer?
ENST00000475226.1:n.255dup
ENST00000633227.1:c.*139dup ENSP00000488004.1:n.*139dup
NM_000518.4:c.323dup NP_000509.1:p.Asn109GlnfsTer?
NM_000518.5:c.323dup MANE Select NP_000509.1:p.Asn109GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'