Canonical Allele Identifier: CA1949567515
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226597_5226612delinsCGTGCAGCTTGTCACA , CM000673.2:g.5226597_5226612delinsCGTGCAGCTTGTCACA GRCh38
NC_000011.9:g.5247827_5247842delinsCGTGCAGCTTGTCACA , CM000673.1:g.5247827_5247842delinsCGTGCAGCTTGTCACA GRCh37
NC_000011.8:g.5204403_5204418delinsCGTGCAGCTTGTCACA NCBI36
NG_000007.3:g.71004_71019delinsTGTGACAAGCTGCACG
NG_059281.1:g.5460_5475delinsTGTGACAAGCTGCACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.280_295delinsTGTGACAAGCTGCACG ENSP00000494175.1:p.Cys94=
ENST00000335295.4:c.280_295delinsTGTGACAAGCTGCACG MANE Select ENSP00000333994.3:p.Cys94=
ENST00000475226.1:n.212_227delinsTGTGACAAGCTGCACG
ENST00000485743.1:n.331_346delinsTGTGACAAGCTGCACG
ENST00000633227.1:c.*96_*111delinsTGTGACAAGCTGCACG ENSP00000488004.1:n.*96_*111delinsTGTGACAAGCTGCACG
NM_000518.4:c.280_295delinsTGTGACAAGCTGCACG NP_000509.1:p.Cys94=
NM_000518.5:c.280_295delinsTGTGACAAGCTGCACG MANE Select NP_000509.1:p.Cys94=
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