Canonical Allele Identifier: CA1949568567
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226696_5226703delinsTGCCATGA , CM000673.2:g.5226696_5226703delinsTGCCATGA GRCh38
NC_000011.9:g.5247926_5247933delinsTGCCATGA , CM000673.1:g.5247926_5247933delinsTGCCATGA GRCh37
NC_000011.8:g.5204502_5204509delinsTGCCATGA NCBI36
NG_000007.3:g.70913_70920delinsTCATGGCA
NG_059281.1:g.5369_5376delinsTCATGGCA

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.189_196delinsTCATGGCA ENSP00000494175.1:p.Ala63=
ENST00000335295.4:c.189_196delinsTCATGGCA MANE Select ENSP00000333994.3:p.Ala63=
ENST00000380315.2:c.189_196delinsTCATGGCA ENSP00000369671.2:p.Ala63=
ENST00000475226.1:n.121_128delinsTCATGGCA
ENST00000485743.1:n.240_247delinsTCATGGCA
ENST00000633227.1:c.*5_*12delinsTCATGGCA ENSP00000488004.1:n.*5_*12delinsTCATGGCA
NM_000518.4:c.189_196delinsTCATGGCA NP_000509.1:p.Ala63=
NM_000518.5:c.189_196delinsTCATGGCA MANE Select NP_000509.1:p.Ala63=
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