Canonical Allele Identifier: CA1949569504
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226779_5226780delinsCA , CM000673.2:g.5226779_5226780delinsCA GRCh38
NC_000011.9:g.5248009_5248010delinsCA , CM000673.1:g.5248009_5248010delinsCA GRCh37
NC_000011.8:g.5204585_5204586delinsCA NCBI36
NG_000007.3:g.70836_70837delinsTG
NG_059281.1:g.5292_5293delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.112_113delinsTG ENSP00000494175.1:p.Trp38=
ENST00000335295.4:c.112_113delinsTG MANE Select ENSP00000333994.3:p.Trp38=
ENST00000380315.2:c.112_113delinsTG ENSP00000369671.2:p.Trp38=
ENST00000475226.1:n.44_45delinsTG
ENST00000485743.1:n.163_164delinsTG
ENST00000633227.1:c.96_97delinsTG ENSP00000488004.1:p.Leu32=
NM_000518.4:c.112_113delinsTG NP_000509.1:p.Trp38=
NM_000518.5:c.112_113delinsTG MANE Select NP_000509.1:p.Trp38=
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