Canonical Allele Identifier: CA2739291425
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225646del , CM000673.2:g.5225646del GRCh38
NC_000011.9:g.5246876del , CM000673.1:g.5246876del GRCh37
NC_000011.8:g.5203452del NCBI36
NG_000007.3:g.71970del
NG_059281.1:g.6426del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.396del ENSP00000494175.1:p.Val134TrpfsTer25
ENST00000335295.4:c.396del MANE Select ENSP00000333994.3:p.Val134TrpfsTer25
ENST00000633227.1:c.*212del ENSP00000488004.1:n.*212del
NM_000518.4:c.396del NP_000509.1:p.Val134TrpfsTer25
NM_000518.5:c.396del MANE Select NP_000509.1:p.Val134TrpfsTer25
Search 100 bp 5'
Search 100 bp 3'