Canonical Allele Identifier: CA677553066
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2098074
ClinVar RCV Id: RCV003006511
dbSNP Id: rs1481385514
gnomAD v3: 11-5226487-CTG-C
gnomAD v4: 11-5226487-CTG-C
MyVariant Identifiers: chr11:g.5247718_5247719del (hg19) chr11:g.5226488_5226489del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226489_5226490del , CM000673.2:g.5226489_5226490del GRCh38
NC_000011.9:g.5247719_5247720del , CM000673.1:g.5247719_5247720del GRCh37
NC_000011.8:g.5204295_5204296del NCBI36
NG_000007.3:g.71127_71128del
NG_059281.1:g.5583_5584del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+88_315+89del ENSP00000494175.1:n.315+88_315+89del
ENST00000335295.4:c.315+88_315+89del MANE Select ENSP00000333994.3:n.315+88_315+89del
ENST00000475226.1:n.247+88_247+89del
ENST00000485743.1:n.454_455del
ENST00000633227.1:c.*131+88_*131+89del ENSP00000488004.1:n.*131+88_*131+89del
NM_000518.4:c.315+88_315+89del NP_000509.1:n.315+88_315+89del
NM_000518.5:c.315+88_315+89del MANE Select NP_000509.1:n.315+88_315+89del
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