Canonical Allele Identifier: CA1949568593
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226697_5226698delinsGC , CM000673.2:g.5226697_5226698delinsGC GRCh38
NC_000011.9:g.5247927_5247928delinsGC , CM000673.1:g.5247927_5247928delinsGC GRCh37
NC_000011.8:g.5204503_5204504delinsGC NCBI36
NG_000007.3:g.70918_70919delinsGC
NG_059281.1:g.5374_5375delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.194_195delinsGC ENSP00000494175.1:p.Gly65=
ENST00000335295.4:c.194_195delinsGC MANE Select ENSP00000333994.3:p.Gly65=
ENST00000380315.2:c.194_195delinsGC ENSP00000369671.2:p.Gly65=
ENST00000475226.1:n.126_127delinsGC
ENST00000485743.1:n.245_246delinsGC
ENST00000633227.1:c.*10_*11delinsGC ENSP00000488004.1:n.*10_*11delinsGC
NM_000518.4:c.194_195delinsGC NP_000509.1:p.Gly65=
NM_000518.5:c.194_195delinsGC MANE Select NP_000509.1:p.Gly65=
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