Canonical Allele Identifier: CA916083221
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869254
ClinVar RCV Id: RCV001078293
dbSNP Id: rs1847587350

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226994_5227525del , CM000673.2:g.5226994_5227525del GRCh38
NC_000011.9:g.5248224_5248755del , CM000673.1:g.5248224_5248755del GRCh37
NC_000011.8:g.5204800_5205331del NCBI36
NG_000007.3:g.70091_70622del
NG_059281.1:g.4547_5078del

Transcript Alleles

HGVS Amino-acid change
ENST00000380315.2:c.-32_28del