Canonical Allele Identifier: CA1949568413

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226679_5226686delinsGGCACCGA , CM000673.2:g.5226679_5226686delinsGGCACCGA	GRCh38
NC_000011.9:g.5247909_5247916delinsGGCACCGA , CM000673.1:g.5247909_5247916delinsGGCACCGA	GRCh37
NC_000011.8:g.5204485_5204492delinsGGCACCGA	NCBI36
NG_000007.3:g.70930_70937delinsTCGGTGCC
NG_059281.1:g.5386_5393delinsTCGGTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.206_213delinsTCGGTGCC	ENSP00000494175.1:p.Leu69=
ENST00000335295.4:c.206_213delinsTCGGTGCC MANE Select	ENSP00000333994.3:p.Leu69=
ENST00000380315.2:c.206_213delinsTCGGTGCC	ENSP00000369671.2:p.Leu69=
ENST00000475226.1:n.138_145delinsTCGGTGCC
ENST00000485743.1:n.257_264delinsTCGGTGCC
ENST00000633227.1:c.*22_*29delinsTCGGTGCC	ENSP00000488004.1:n.*22_*29delinsTCGGTGCC
NM_000518.4:c.206_213delinsTCGGTGCC	NP_000509.1:p.Leu69=
NM_000518.5:c.206_213delinsTCGGTGCC MANE Select	NP_000509.1:p.Leu69=