Canonical Allele Identifier: CA2573147146
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1641954
ClinVar RCV Id: RCV002134438
dbSNP Id: rs2133587449
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226412_5226420del , CM000673.2:g.5226412_5226420del GRCh38
NC_000011.9:g.5247642_5247650del , CM000673.1:g.5247642_5247650del GRCh37
NC_000011.8:g.5204218_5204226del NCBI36
NG_000007.3:g.71197_71205del
NG_059281.1:g.5653_5661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+158_315+166del ENSP00000494175.1:n.315+158_315+166del
ENST00000335295.4:c.315+158_315+166del MANE Select ENSP00000333994.3:n.315+158_315+166del
ENST00000475226.1:n.247+158_247+166del
ENST00000485743.1:n.524_532del
ENST00000633227.1:c.*131+158_*131+166del ENSP00000488004.1:n.*131+158_*131+166del
NM_000518.4:c.315+158_315+166del NP_000509.1:n.315+158_315+166del
NM_000518.5:c.315+158_315+166del MANE Select NP_000509.1:n.315+158_315+166del
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