Canonical Allele Identifier: CA2612162109

Gene: HBB

Linked Data

• gnomAD v4: 11-5226419-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226423del , CM000673.2:g.5226423del	GRCh38
NC_000011.9:g.5247653del , CM000673.1:g.5247653del	GRCh37
NC_000011.8:g.5204229del	NCBI36
NG_000007.3:g.71196del
NG_059281.1:g.5652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+157del	ENSP00000494175.1:n.315+157del
ENST00000335295.4:c.315+157del MANE Select	ENSP00000333994.3:n.315+157del
ENST00000475226.1:n.247+157del
ENST00000485743.1:n.523del
ENST00000633227.1:c.*131+157del	ENSP00000488004.1:n.*131+157del
NM_000518.4:c.315+157del	NP_000509.1:n.315+157del
NM_000518.5:c.315+157del MANE Select	NP_000509.1:n.315+157del