Canonical Allele Identifier: CA2580084012
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2044665
ClinVar RCV Id: RCV002903856

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226791_5226832del , CM000673.2:g.5226791_5226832del GRCh38
NC_000011.9:g.5248021_5248062del , CM000673.1:g.5248021_5248062del GRCh37
NC_000011.8:g.5204597_5204638del NCBI36
NG_000007.3:g.70784_70825del
NG_059281.1:g.5240_5281del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-33_101del
ENST00000335295.4:c.93-33_101del
ENST00000380315.2:c.93-33_101del
ENST00000485743.1:n.144-33_152del
ENST00000633227.1:c.77-33_85del
NM_000518.4:c.93-33_101del
NM_000518.5:c.93-33_101del