Canonical Allele Identifier: CA2790274533
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227016_5227017insTC , CM000673.2:g.5227016_5227017insTC GRCh38
NC_000011.9:g.5248246_5248247insTC , CM000673.1:g.5248246_5248247insTC GRCh37
NC_000011.8:g.5204822_5204823insTC NCBI36
NG_000007.3:g.70600_70601insAG
NG_059281.1:g.5056_5057insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.6_7insAG ENSP00000494175.1:p.His3SerfsTer3
ENST00000335295.4:c.6_7insAG MANE Select ENSP00000333994.3:p.His3SerfsTer3
ENST00000380315.2:c.6_7insAG ENSP00000369671.2:p.His3SerfsTer3
ENST00000485743.1:n.57_58insAG
ENST00000633227.1:c.6_7insAG ENSP00000488004.1:p.His3SerfsTer3
NM_000518.4:c.6_7insAG NP_000509.1:p.His3SerfsTer3
NM_000518.5:c.6_7insAG MANE Select NP_000509.1:p.His3SerfsTer3
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