Canonical Allele Identifier: CA658683671

Gene: HBB

Linked Data

• ClinVar Variation Id: 495998
• ClinVar RCV Id: RCV000588177 ; RCV001002371
• dbSNP Id: rs1554917561
• MyVariant Identifiers: chr11:g.5246894_5246901del (hg19) ; chr11:g.5225664_5225671del (hg38)
• PubMed: PMID:2070092 ; PMID:7558879 ; PMID:19460936 ; PMID:23525874 ; PMID:23637309 ; PMID:25525381

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225666_5225673del , CM000673.2:g.5225666_5225673del	GRCh38
NC_000011.9:g.5246896_5246903del , CM000673.1:g.5246896_5246903del	GRCh37
NC_000011.8:g.5203472_5203479del	NCBI36
NG_000007.3:g.71945_71952del
NG_059281.1:g.6401_6408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.371_378del	ENSP00000494175.1:p.Thr124SerfsTer14
ENST00000335295.4:c.371_378del MANE Select	ENSP00000333994.3:p.Thr124SerfsTer14
ENST00000475226.1:n.303_310del
ENST00000633227.1:c.*187_*194del	ENSP00000488004.1:n.*187_*194del
NM_000518.4:c.371_378del	NP_000509.1:p.Thr124SerfsTer14
NM_000518.5:c.371_378del MANE Select	NP_000509.1:p.Thr124SerfsTer14