Canonical Allele Identifier: CA125288

Gene: HBB

Linked Data

• ClinVar Variation Id: 15422
• ClinVar RCV Id: RCV000016678 ; RCV000506399 ; RCV000586913 ; RCV001004360 ; RCV002476977 ; RCV004541006
• dbSNP Id: rs34889882
• ExAC: 11:5248233 CAG / C
• gnomAD v2: 11-5248233-CAG-C
• gnomAD v3: 11-5227003-CAG-C
• gnomAD v4: 11-5227003-CAG-C
• MyVariant Identifiers: chr11:g.5248234_5248235del (hg19) ; chr11:g.5227004_5227005del (hg38)
• PubMed: PMID:2606727 ; PMID:9225979 ; PMID:15278762 ; PMID:17486505 ; PMID:23457306 ; PMID:25617386 ; PMID:27263053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227004_5227005del , CM000673.2:g.5227004_5227005del	GRCh38
NC_000011.9:g.5248234_5248235del , CM000673.1:g.5248234_5248235del	GRCh37
NC_000011.8:g.5204810_5204811del	NCBI36
NG_000007.3:g.70611_70612del
NG_059281.1:g.5067_5068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.17_18del	ENSP00000494175.1:p.Pro6ArgfsTer17
ENST00000335295.4:c.17_18del MANE Select	ENSP00000333994.3:p.Pro6ArgfsTer17
ENST00000380315.2:c.17_18del	ENSP00000369671.2:p.Pro6ArgfsTer17
ENST00000485743.1:n.68_69del
ENST00000633227.1:c.17_18del	ENSP00000488004.1:p.Pro6ArgfsTer17
NM_000518.4:c.17_18del	NP_000509.1:p.Pro6ArgfsTer17
NM_000518.5:c.17_18del MANE Select	NP_000509.1:p.Pro6ArgfsTer17