Canonical Allele Identifier: CA2580083957

Gene: HBB

Linked Data

• ClinVar Variation Id: 2127595
• ClinVar RCV Id: RCV003035913

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226363del , CM000673.2:g.5226363del	GRCh38
NC_000011.9:g.5247593del , CM000673.1:g.5247593del	GRCh37
NC_000011.8:g.5204169del	NCBI36
NG_000007.3:g.71253del
NG_059281.1:g.5709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+214del	ENSP00000494175.1:n.315+214del
ENST00000335295.4:c.315+214del MANE Select	ENSP00000333994.3:n.315+214del
ENST00000475226.1:n.247+214del
ENST00000485743.1:n.580del
ENST00000633227.1:c.*131+214del	ENSP00000488004.1:n.*131+214del
NM_000518.4:c.315+214del	NP_000509.1:n.315+214del
NM_000518.5:c.315+214del MANE Select	NP_000509.1:n.315+214del