Canonical Allele Identifier: CA5839709

Gene: HBB

Linked Data

• dbSNP Id: rs771735835
• ExAC: 11:5246962 G / GATCCAC
• gnomAD v2: 11-5246962-G-GATCCAC
• gnomAD v4: 11-5225732-G-GATCCAC
• MyVariant Identifiers: chr11:g.5246962_5246963insATCCAC (hg19) ; chr11:g.5225732_5225733insATCCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225732_5225733insATCCAC , CM000673.2:g.5225732_5225733insATCCAC	GRCh38
NC_000011.9:g.5246962_5246963insATCCAC , CM000673.1:g.5246962_5246963insATCCAC	GRCh37
NC_000011.8:g.5203538_5203539insATCCAC	NCBI36
NG_000007.3:g.71883_71884insGTGGAT
NG_059281.1:g.6339_6340insGTGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-7_316-6insGTGGAT	ENSP00000494175.1:n.316-7_316-6insGTGGAT
ENST00000335295.4:c.316-7_316-6insGTGGAT MANE Select	ENSP00000333994.3:n.316-7_316-6insGTGGAT
ENST00000475226.1:n.248-7_248-6insGTGGAT
ENST00000633227.1:c.*132-7_*132-6insGTGGAT	ENSP00000488004.1:n.*132-7_*132-6insGTGGAT
NM_000518.4:c.316-7_316-6insGTGGAT	NP_000509.1:n.316-7_316-6insGTGGAT
NM_000518.5:c.316-7_316-6insGTGGAT MANE Select	NP_000509.1:n.316-7_316-6insGTGGAT