Canonical Allele Identifier: CA916083211
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869252
ClinVar RCV Id: RCV001078291
dbSNP Id: rs1847582308

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226948_5227485del , CM000673.2:g.5226948_5227485del GRCh38
NC_000011.9:g.5248178_5248715del , CM000673.1:g.5248178_5248715del GRCh37
NC_000011.8:g.5204754_5205291del NCBI36
NG_000007.3:g.70131_70668del
NG_059281.1:g.4587_5124del

Transcript Alleles

HGVS Amino-acid change
ENST00000380315.2:c.-19+27_74del