Canonical Allele Identifier: CA677552987
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2159789
ClinVar RCV Id: RCV003087464
dbSNP Id: rs879578966
gnomAD v3: 11-5226363-GAAAA-G
gnomAD v4: 11-5226363-GAAAA-G
MyVariant Identifiers: chr11:g.5247594_5247597del (hg19) chr11:g.5226364_5226367del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226369_5226372del , CM000673.2:g.5226369_5226372del GRCh38
NC_000011.9:g.5247599_5247602del , CM000673.1:g.5247599_5247602del GRCh37
NC_000011.8:g.5204175_5204178del NCBI36
NG_000007.3:g.71249_71252del
NG_059281.1:g.5705_5708del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+210_315+213del ENSP00000494175.1:n.315+210_315+213del
ENST00000335295.4:c.315+210_315+213del MANE Select ENSP00000333994.3:n.315+210_315+213del
ENST00000475226.1:n.247+210_247+213del
ENST00000485743.1:n.576_579del
ENST00000633227.1:c.*131+210_*131+213del ENSP00000488004.1:n.*131+210_*131+213del
NM_000518.4:c.315+210_315+213del NP_000509.1:n.315+210_315+213del
NM_000518.5:c.315+210_315+213del MANE Select NP_000509.1:n.315+210_315+213del
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