Canonical Allele Identifier: CA2612161718

Gene: HBB

Linked Data

• gnomAD v4: 11-5226182-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226186_5226189del , CM000673.2:g.5226186_5226189del	GRCh38
NC_000011.9:g.5247416_5247419del , CM000673.1:g.5247416_5247419del	GRCh37
NC_000011.8:g.5203992_5203995del	NCBI36
NG_000007.3:g.71430_71433del
NG_059281.1:g.5886_5889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+391_315+394del	ENSP00000494175.1:n.315+391_315+394del
ENST00000335295.4:c.315+391_315+394del MANE Select	ENSP00000333994.3:n.315+391_315+394del
ENST00000475226.1:n.247+391_247+394del
ENST00000633227.1:c.*131+391_*131+394del	ENSP00000488004.1:n.*131+391_*131+394del
NM_000518.4:c.315+391_315+394del	NP_000509.1:n.315+391_315+394del
NM_000518.5:c.315+391_315+394del MANE Select	NP_000509.1:n.315+391_315+394del