Canonical Allele Identifier: CA2790274423
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226933_5226935del , CM000673.2:g.5226933_5226935del GRCh38
NC_000011.9:g.5248163_5248165del , CM000673.1:g.5248163_5248165del GRCh37
NC_000011.8:g.5204739_5204741del NCBI36
NG_000007.3:g.70681_70683del
NG_059281.1:g.5137_5139del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.87_89del ENSP00000494175.1:p.Gly30del
ENST00000335295.4:c.87_89del MANE Select ENSP00000333994.3:p.Gly30del
ENST00000380315.2:c.87_89del ENSP00000369671.2:p.Gly30del
ENST00000485743.1:n.138_140del
ENST00000633227.1:c.76+11_76+13del ENSP00000488004.1:n.76+11_76+13del
NM_000518.4:c.87_89del NP_000509.1:p.Gly30del
NM_000518.5:c.87_89del MANE Select NP_000509.1:p.Gly30del
Search 100 bp 5'
Search 100 bp 3'