Canonical Allele Identifier: CA2582341861
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2585253
ClinVar RCV Id: RCV003337869
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225620_5225621delinsAT , CM000673.2:g.5225620_5225621delinsAT GRCh38
NC_000011.9:g.5246850_5246851delinsAT , CM000673.1:g.5246850_5246851delinsAT GRCh37
NC_000011.8:g.5203426_5203427delinsAT NCBI36
NG_000007.3:g.71995_71996delinsAT
NG_059281.1:g.6451_6452delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.421_422delinsAT ENSP00000494175.1:p.Ala141Ile
ENST00000335295.4:c.421_422delinsAT MANE Select ENSP00000333994.3:p.Ala141Ile
ENST00000633227.1:c.*237_*238delinsAT ENSP00000488004.1:n.*237_*238delinsAT
NM_000518.4:c.421_422delinsAT NP_000509.1:p.Ala141Ile
NM_000518.5:c.421_422delinsAT MANE Select NP_000509.1:p.Ala141Ile
Search 100 bp 5'
Search 100 bp 3'