Canonical Allele Identifier: CA1949568195
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226661_5226663delinsAGC , CM000673.2:g.5226661_5226663delinsAGC GRCh38
NC_000011.9:g.5247891_5247893delinsAGC , CM000673.1:g.5247891_5247893delinsAGC GRCh37
NC_000011.8:g.5204467_5204469delinsAGC NCBI36
NG_000007.3:g.70953_70955delinsGCT
NG_059281.1:g.5409_5411delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.229_231delinsGCT ENSP00000494175.1:p.Ala77=
ENST00000335295.4:c.229_231delinsGCT MANE Select ENSP00000333994.3:p.Ala77=
ENST00000380315.2:c.229_231delinsGCT ENSP00000369671.2:p.Ala77=
ENST00000475226.1:n.161_163delinsGCT
ENST00000485743.1:n.280_282delinsGCT
ENST00000633227.1:c.*45_*47delinsGCT ENSP00000488004.1:n.*45_*47delinsGCT
NM_000518.4:c.229_231delinsGCT NP_000509.1:p.Ala77=
NM_000518.5:c.229_231delinsGCT MANE Select NP_000509.1:p.Ala77=
Search 100 bp 5'
Search 100 bp 3'