Canonical Allele Identifier: CA2580083964
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2014931
ClinVar RCV Id: RCV002861730

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226399_5226401del , CM000673.2:g.5226399_5226401del GRCh38
NC_000011.9:g.5247629_5247631del , CM000673.1:g.5247629_5247631del GRCh37
NC_000011.8:g.5204205_5204207del NCBI36
NG_000007.3:g.71217_71219del
NG_059281.1:g.5673_5675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+178_315+180del ENSP00000494175.1:n.315+178_315+180del
ENST00000335295.4:c.315+178_315+180del MANE Select ENSP00000333994.3:n.315+178_315+180del
ENST00000475226.1:n.247+178_247+180del
ENST00000485743.1:n.544_546del
ENST00000633227.1:c.*131+178_*131+180del ENSP00000488004.1:n.*131+178_*131+180del
NM_000518.4:c.315+178_315+180del NP_000509.1:n.315+178_315+180del
NM_000518.5:c.315+178_315+180del MANE Select NP_000509.1:n.315+178_315+180del