Canonical Allele Identifier: CA1949567749
Gene: HBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226625_5226627delinsCAG , CM000673.2:g.5226625_5226627delinsCAG GRCh38
NC_000011.9:g.5247855_5247857delinsCAG , CM000673.1:g.5247855_5247857delinsCAG GRCh37
NC_000011.8:g.5204431_5204433delinsCAG NCBI36
NG_000007.3:g.70989_70991delinsCTG
NG_059281.1:g.5445_5447delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.265_267delinsCTG ENSP00000494175.1:p.Leu89=
ENST00000335295.4:c.265_267delinsCTG MANE Select ENSP00000333994.3:p.Leu89=
ENST00000380315.2:c.265_267delinsCTG ENSP00000369671.2:p.Leu89=
ENST00000475226.1:n.197_199delinsCTG
ENST00000485743.1:n.316_318delinsCTG
ENST00000633227.1:c.*81_*83delinsCTG ENSP00000488004.1:n.*81_*83delinsCTG
NM_000518.4:c.265_267delinsCTG NP_000509.1:p.Leu89=
NM_000518.5:c.265_267delinsCTG MANE Select NP_000509.1:p.Leu89=
Search 100 bp 5'
Search 100 bp 3'