Canonical Allele Identifier: CA918809842

Gene: HBB

Linked Data

• ClinVar Variation Id: 1584154
• ClinVar RCV Id: RCV002100281
• dbSNP Id: rs879578966
• gnomAD v4: 11-5226363-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226370_5226372del , CM000673.2:g.5226370_5226372del	GRCh38
NC_000011.9:g.5247600_5247602del , CM000673.1:g.5247600_5247602del	GRCh37
NC_000011.8:g.5204176_5204178del	NCBI36
NG_000007.3:g.71250_71252del
NG_059281.1:g.5706_5708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+211_315+213del	ENSP00000494175.1:n.315+211_315+213del
ENST00000335295.4:c.315+211_315+213del MANE Select	ENSP00000333994.3:n.315+211_315+213del
ENST00000475226.1:n.247+211_247+213del
ENST00000485743.1:n.577_579del
ENST00000633227.1:c.*131+211_*131+213del	ENSP00000488004.1:n.*131+211_*131+213del
NM_000518.4:c.315+211_315+213del	NP_000509.1:n.315+211_315+213del
NM_000518.5:c.315+211_315+213del MANE Select	NP_000509.1:n.315+211_315+213del