Canonical Allele Identifier: CA2695212997
Gene: HBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225622dup , CM000673.2:g.5225622dup GRCh38
NC_000011.9:g.5246852dup , CM000673.1:g.5246852dup GRCh37
NC_000011.8:g.5203428dup NCBI36
NG_000007.3:g.71994dup
NG_059281.1:g.6450dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.420dup ENSP00000494175.1:p.Ala141CysfsTer25
ENST00000335295.4:c.420dup MANE Select ENSP00000333994.3:p.Ala141CysfsTer25
ENST00000633227.1:c.*236dup ENSP00000488004.1:n.*236dup
NM_000518.4:c.420dup NP_000509.1:p.Ala141CysfsTer25
NM_000518.5:c.420dup MANE Select NP_000509.1:p.Ala141CysfsTer25
Search 100 bp 5'
Search 100 bp 3'