Canonical Allele Identifier: CA124997

Gene: HBB

Linked Data

• ClinVar Variation Id: 15247
• ClinVar RCV Id: RCV000016452 ; RCV001800302
• dbSNP Id: rs63750928
• gnomAD v3: 11-5226997-TCTC-T
• gnomAD v4: 11-5226997-TCTC-T
• MyVariant Identifiers: chr11:g.5248228_5248230del (hg19) ; chr11:g.5226998_5227000del (hg38)
• PubMed: PMID:6874375 ; PMID:7165693

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227001_5227003del , CM000673.2:g.5227001_5227003del	GRCh38
NC_000011.9:g.5248231_5248233del , CM000673.1:g.5248231_5248233del	GRCh37
NC_000011.8:g.5204807_5204809del	NCBI36
NG_000007.3:g.70616_70618del
NG_059281.1:g.5072_5074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.22_24del	ENSP00000494175.1:p.Glu8del
ENST00000335295.4:c.22_24del MANE Select	ENSP00000333994.3:p.Glu8del
ENST00000380315.2:c.22_24del	ENSP00000369671.2:p.Glu8del
ENST00000485743.1:n.73_75del
ENST00000633227.1:c.22_24del	ENSP00000488004.1:p.Glu8del
NM_000518.4:c.22_24del	NP_000509.1:p.Glu8del
NM_000518.5:c.22_24del MANE Select	NP_000509.1:p.Glu8del