Canonical Allele Identifier: CA125286

Gene: HBB

Linked Data

• ClinVar Variation Id: 15419
• ClinVar RCV Id: RCV000016675 ; RCV000507557 ; RCV000576855
• dbSNP Id: rs33969853
• ExAC: 11:5247904 C / CT
• gnomAD v2: 11-5247904-C-CT
• gnomAD v4: 11-5226674-C-CT
• MyVariant Identifiers: chr11:g.5247905_5247906insT (hg19) ; chr11:g.5247904_5247905insT (hg19) ; chr11:g.5226675_5226676insT (hg38) ; chr11:g.5226674_5226675insT (hg38)
• PubMed: PMID:6585831 ; PMID:12955718 ; PMID:16206199 ; PMID:19460936 ; PMID:20412082 ; PMID:22335963 ; PMID:23590658 ; PMID:24369358 ; PMID:26956563

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226675dup , CM000673.2:g.5226675dup	GRCh38
NC_000011.9:g.5247905dup , CM000673.1:g.5247905dup	GRCh37
NC_000011.8:g.5204481dup	NCBI36
NG_000007.3:g.70941dup
NG_059281.1:g.5397dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.217dup	ENSP00000494175.1:p.Ser73LysfsTer2
ENST00000335295.4:c.217dup MANE Select	ENSP00000333994.3:p.Ser73LysfsTer2
ENST00000380315.2:c.217dup	ENSP00000369671.2:p.Ser73LysfsTer2
ENST00000475226.1:n.149dup
ENST00000485743.1:n.268dup
ENST00000633227.1:c.*33dup	ENSP00000488004.1:n.*33dup
NM_000518.4:c.217dup	NP_000509.1:p.Ser73LysfsTer2
NM_000518.5:c.217dup MANE Select	NP_000509.1:p.Ser73LysfsTer2