Canonical Allele Identifier: CA1949563731

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225492_5225505delinsGGCAGAATCCAGAT , CM000673.2:g.5225492_5225505delinsGGCAGAATCCAGAT	GRCh38
NC_000011.9:g.5246722_5246735delinsGGCAGAATCCAGAT , CM000673.1:g.5246722_5246735delinsGGCAGAATCCAGAT	GRCh37
NC_000011.8:g.5203298_5203311delinsGGCAGAATCCAGAT	NCBI36
NG_000007.3:g.72111_72124delinsATCTGGATTCTGCC
NG_059281.1:g.6567_6580delinsATCTGGATTCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*93_*106delinsATCTGGATTCTGCC	ENSP00000494175.1:n.*93_*106delinsATCTGGATTCTGCC
ENST00000335295.4:c.*93_*106delinsATCTGGATTCTGCC MANE Select	ENSP00000333994.3:n.*93_*106delinsATCTGGATTCTGCC
ENST00000633227.1:c.*353_*366delinsATCTGGATTCTGCC	ENSP00000488004.1:n.*353_*366delinsATCTGGATTCTGCC
NM_000518.4:c.*93_*106delinsATCTGGATTCTGCC	NP_000509.1:n.*93_*106delinsATCTGGATTCTGCC
NM_000518.5:c.*93_*106delinsATCTGGATTCTGCC MANE Select	NP_000509.1:n.*93_*106delinsATCTGGATTCTGCC