Canonical Allele Identifier: CA2695213039

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226650_5226660delinsCTGTCCAGGTA , CM000673.2:g.5226650_5226660delinsCTGTCCAGGTA	GRCh38
NC_000011.9:g.5247880_5247890delinsCTGTCCAGGTA , CM000673.1:g.5247880_5247890delinsCTGTCCAGGTA	GRCh37
NC_000011.8:g.5204456_5204466delinsCTGTCCAGGTA	NCBI36
NG_000007.3:g.70956_70966delinsTACCTGGACAG
NG_059281.1:g.5412_5422delinsTACCTGGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.232_242delinsTACCTGGACAG	ENSP00000494175.1:p.His78_Asn81delinsTyrLeuAspSer
ENST00000335295.4:c.232_242delinsTACCTGGACAG MANE Select	ENSP00000333994.3:p.His78_Asn81delinsTyrLeuAspSer
ENST00000380315.2:c.232_242delinsTACCTGGACAG	ENSP00000369671.2:p.His78_Asn81delinsTyrLeuAspSer
ENST00000475226.1:n.164_174delinsTACCTGGACAG
ENST00000485743.1:n.283_293delinsTACCTGGACAG
ENST00000633227.1:c.*48_*58delinsTACCTGGACAG	ENSP00000488004.1:n.*48_*58delinsTACCTGGACAG
NM_000518.4:c.232_242delinsTACCTGGACAG	NP_000509.1:p.His78_Asn81delinsTyrLeuAspSer
NM_000518.5:c.232_242delinsTACCTGGACAG MANE Select	NP_000509.1:p.His78_Asn81delinsTyrLeuAspSer