Canonical Allele Identifier: CA913190233
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 633258
ClinVar RCV Id: RCV000781446
dbSNP Id: rs1564874813
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226575del , CM000673.2:g.5226575del GRCh38
NC_000011.9:g.5247805del , CM000673.1:g.5247805del GRCh37
NC_000011.8:g.5204381del NCBI36
NG_000007.3:g.71041del
NG_059281.1:g.5497del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+2del ENSP00000494175.1:n.315+2del
ENST00000335295.4:c.315+2del MANE Select ENSP00000333994.3:n.315+2del
ENST00000475226.1:n.247+2del
ENST00000485743.1:n.368del
ENST00000633227.1:c.*131+2del ENSP00000488004.1:n.*131+2del
NM_000518.4:c.315+2del NP_000509.1:n.315+2del
NM_000518.5:c.315+2del MANE Select NP_000509.1:n.315+2del
Search 100 bp 5'
Search 100 bp 3'