Canonical Allele Identifier: CA2739276129

Gene: HBB

Linked Data

• ClinVar Variation Id: 2875907
• ClinVar RCV Id: RCV003707498

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225760del , CM000673.2:g.5225760del	GRCh38
NC_000011.9:g.5246990del , CM000673.1:g.5246990del	GRCh37
NC_000011.8:g.5203566del	NCBI36
NG_000007.3:g.71857del
NG_059281.1:g.6313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-33del	ENSP00000494175.1:n.316-33del
ENST00000335295.4:c.316-33del MANE Select	ENSP00000333994.3:n.316-33del
ENST00000475226.1:n.248-33del
ENST00000633227.1:c.*132-33del	ENSP00000488004.1:n.*132-33del
NM_000518.4:c.316-33del	NP_000509.1:n.316-33del
NM_000518.5:c.316-33del MANE Select	NP_000509.1:n.316-33del