Canonical Allele Identifier: CA2695213058
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226822del , CM000673.2:g.5226822del GRCh38
NC_000011.9:g.5248052del , CM000673.1:g.5248052del GRCh37
NC_000011.8:g.5204628del NCBI36
NG_000007.3:g.70795del
NG_059281.1:g.5251del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-22del ENSP00000494175.1:n.93-22del
ENST00000335295.4:c.93-22del MANE Select ENSP00000333994.3:n.93-22del
ENST00000380315.2:c.93-22del ENSP00000369671.2:n.93-22del
ENST00000475226.1:n.3del
ENST00000485743.1:n.144-22del
ENST00000633227.1:c.77-22del ENSP00000488004.1:n.77-22del
NM_000518.4:c.93-22del NP_000509.1:n.93-22del
NM_000518.5:c.93-22del MANE Select NP_000509.1:n.93-22del