Canonical Allele Identifier: CA2695213085
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227134_5227258del , CM000673.2:g.5227134_5227258del GRCh38
NC_000011.9:g.5248364_5248488del , CM000673.1:g.5248364_5248488del GRCh37
NC_000011.8:g.5204940_5205064del NCBI36
NG_000007.3:g.70362_70486del
NG_059281.1:g.4818_4942del

Transcript Alleles

HGVS Amino-acid change
ENST00000380315.2:c.-18-215_-18-91del ENSP00000369671.2:n.-18-215_-18-91del