Canonical Allele Identifier: CA2695213081
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227111del , CM000673.2:g.5227111del GRCh38
NC_000011.9:g.5248341del , CM000673.1:g.5248341del GRCh37
NC_000011.8:g.5204917del NCBI36
NG_000007.3:g.70507del
NG_059281.1:g.4963del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-88del ENSP00000494175.1:n.-88del
ENST00000380315.2:c.-18-70del ENSP00000369671.2:n.-18-70del