Canonical Allele Identifier: CA2580617817
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226632_5226633delinsAT , CM000673.2:g.5226632_5226633delinsAT GRCh38
NC_000011.9:g.5247862_5247863delinsAT , CM000673.1:g.5247862_5247863delinsAT GRCh37
NC_000011.8:g.5204438_5204439delinsAT NCBI36
NG_000007.3:g.70983_70984delinsAT
NG_059281.1:g.5439_5440delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.259_260delinsAT ENSP00000494175.1:p.Ala87Ile
ENST00000335295.4:c.259_260delinsAT MANE Select ENSP00000333994.3:p.Ala87Ile
ENST00000380315.2:c.259_260delinsAT ENSP00000369671.2:p.Ala87Ile
ENST00000475226.1:n.191_192delinsAT
ENST00000485743.1:n.310_311delinsAT
ENST00000633227.1:c.*75_*76delinsAT ENSP00000488004.1:n.*75_*76delinsAT
NM_000518.4:c.259_260delinsAT NP_000509.1:p.Ala87Ile
NM_000518.5:c.259_260delinsAT MANE Select NP_000509.1:p.Ala87Ile
Search 100 bp 5'
Search 100 bp 3'