Canonical Allele Identifier: CA1139767774
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.[5225635_5225645del;5225654_5225657delinsTGTGG] , CM000673.2:g.[5225635_5225645del;5225654_5225657delinsTGTGG] GRCh38
NC_000011.9:g.[5246865_5246875del;5246884_5246887delinsTGTGG] , CM000673.1:g.[5246865_5246875del;5246884_5246887delinsTGTGG] GRCh37
NC_000011.8:g.[5203441_5203451del;5203460_5203463delinsTGTGG] NCBI36
NG_000007.3:g.[71959_71962delinsCCACA;71971_71981del]
NG_059281.1:g.[6415_6418delinsCCACA;6427_6437del]

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.[385_388delinsCCACA;397_407del] ENSP00000494175.1:p.Ala129_Ala136delinsProHisLeuSer
ENST00000335295.4:c.[385_388delinsCCACA;397_407del] MANE Select ENSP00000333994.3:p.Ala129_Ala136delinsProHisLeuSer
ENST00000633227.1:c.[*201_*204delinsCCACA;*213_*223del] ENSP00000488004.1:n.[*201_*204delinsCCACA;*213_*223del]
NM_000518.4:c.[385_388delinsCCACA;397_407del] NP_000509.1:p.Ala129_Ala136delinsProHisLeuSer
NM_000518.5:c.[385_388delinsCCACA;397_407del] MANE Select NP_000509.1:p.Ala129_Ala136delinsProHisLeuSer
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