Canonical Allele Identifier: CA1949564337
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225623_5225629delinsTTAGCCA , CM000673.2:g.5225623_5225629delinsTTAGCCA GRCh38
NC_000011.9:g.5246853_5246859delinsTTAGCCA , CM000673.1:g.5246853_5246859delinsTTAGCCA GRCh37
NC_000011.8:g.5203429_5203435delinsTTAGCCA NCBI36
NG_000007.3:g.71987_71993delinsTGGCTAA
NG_059281.1:g.6443_6449delinsTGGCTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.413_419delinsTGGCTAA ENSP00000494175.1:p.Val138=
ENST00000335295.4:c.413_419delinsTGGCTAA MANE Select ENSP00000333994.3:p.Val138=
ENST00000633227.1:c.*229_*235delinsTGGCTAA ENSP00000488004.1:n.*229_*235delinsTGGCTAA
NM_000518.4:c.413_419delinsTGGCTAA NP_000509.1:p.Val138=
NM_000518.5:c.413_419delinsTGGCTAA MANE Select NP_000509.1:p.Val138=
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