Canonical Allele Identifier: CA2843640270
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225648dup , CM000673.2:g.5225648dup GRCh38
NC_000011.9:g.5246878dup , CM000673.1:g.5246878dup GRCh37
NC_000011.8:g.5203454dup NCBI36
NG_000007.3:g.71968dup
NG_059281.1:g.6424dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.394dup ENSP00000494175.1:p.Gln132ProfsTer9
ENST00000335295.4:c.394dup MANE Select ENSP00000333994.3:p.Gln132ProfsTer9
ENST00000633227.1:c.*210dup ENSP00000488004.1:n.*210dup
NM_000518.4:c.394dup NP_000509.1:p.Gln132ProfsTer9
NM_000518.5:c.394dup MANE Select NP_000509.1:p.Gln132ProfsTer9
Search 100 bp 5'
Search 100 bp 3'