Canonical Allele Identifier: CA1949569306
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs80356821
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226765_5226768dup , CM000673.2:g.5226765_5226768dup GRCh38
NC_000011.9:g.5247995_5247998dup , CM000673.1:g.5247995_5247998dup GRCh37
NC_000011.8:g.5204571_5204574dup NCBI36
NG_000007.3:g.70850_70853dup
NG_059281.1:g.5306_5309dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.126_129dup ENSP00000494175.1:p.Glu44LeufsTer2
ENST00000335295.4:c.126_129dup MANE Select ENSP00000333994.3:p.Glu44LeufsTer2
ENST00000380315.2:c.126_129dup ENSP00000369671.2:p.Glu44LeufsTer2
ENST00000475226.1:n.58_61dup
ENST00000485743.1:n.177_180dup
ENST00000633227.1:c.110_113dup ENSP00000488004.1:p.Leu38PhefsTer?
NM_000518.4:c.126_129dup NP_000509.1:p.Glu44LeufsTer2
NM_000518.5:c.126_129dup MANE Select NP_000509.1:p.Glu44LeufsTer2
Search 100 bp 5'
Search 100 bp 3'