Canonical Allele Identifier: CA2843640261
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225536del , CM000673.2:g.5225536del GRCh38
NC_000011.9:g.5246766del , CM000673.1:g.5246766del GRCh37
NC_000011.8:g.5203342del NCBI36
NG_000007.3:g.72082del
NG_059281.1:g.6538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*64del ENSP00000494175.1:n.*64del
ENST00000335295.4:c.*64del MANE Select ENSP00000333994.3:n.*64del
ENST00000633227.1:c.*324del ENSP00000488004.1:n.*324del
NM_000518.4:c.*64del NP_000509.1:n.*64del
NM_000518.5:c.*64del MANE Select NP_000509.1:n.*64del