Canonical Allele Identifier: CA916083189
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869251
ClinVar RCV Id: RCV001078290

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226641_5227549del , CM000673.2:g.5226641_5227549del GRCh38
NC_000011.9:g.5247871_5248779del , CM000673.1:g.5247871_5248779del GRCh37
NC_000011.8:g.5204447_5205355del NCBI36
NG_000007.3:g.70067_70975del
NG_059281.1:g.4523_5431del

Transcript Alleles

HGVS Amino-acid change
ENST00000380315.2:c.-56_251del