Canonical Allele Identifier: CA2695213034
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226606_5226620dup , CM000673.2:g.5226606_5226620dup GRCh38
NC_000011.9:g.5247836_5247850dup , CM000673.1:g.5247836_5247850dup GRCh37
NC_000011.8:g.5204412_5204426dup NCBI36
NG_000007.3:g.71004_71018dup
NG_059281.1:g.5460_5474dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.280_294dup ENSP00000494175.1:p.His98_Val99insCysAspLysLeuHis
ENST00000335295.4:c.280_294dup MANE Select ENSP00000333994.3:p.His98_Val99insCysAspLysLeuHis
ENST00000475226.1:n.212_226dup
ENST00000485743.1:n.331_345dup
ENST00000633227.1:c.*96_*110dup ENSP00000488004.1:n.*96_*110dup
NM_000518.4:c.280_294dup NP_000509.1:p.His98_Val99insCysAspLysLeuHis
NM_000518.5:c.280_294dup MANE Select NP_000509.1:p.His98_Val99insCysAspLysLeuHis
Search 100 bp 5'
Search 100 bp 3'