Canonical Allele Identifier: CA1949569703

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226799_5226816delinsCCTAAGGGTGGGAAAATA , CM000673.2:g.5226799_5226816delinsCCTAAGGGTGGGAAAATA	GRCh38
NC_000011.9:g.5248029_5248046delinsCCTAAGGGTGGGAAAATA , CM000673.1:g.5248029_5248046delinsCCTAAGGGTGGGAAAATA	GRCh37
NC_000011.8:g.5204605_5204622delinsCCTAAGGGTGGGAAAATA	NCBI36
NG_000007.3:g.70800_70817delinsTATTTTCCCACCCTTAGG
NG_059281.1:g.5256_5273delinsTATTTTCCCACCCTTAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-17_93delinsTATTTTCCCACCCTTAGG
ENST00000335295.4:c.93-17_93delinsTATTTTCCCACCCTTAGG
ENST00000380315.2:c.93-17_93delinsTATTTTCCCACCCTTAGG
ENST00000475226.1:n.8_25delinsTATTTTCCCACCCTTAGG
ENST00000485743.1:n.144-17_144delinsTATTTTCCCACCCTTAGG
ENST00000633227.1:c.77-17_77delinsTATTTTCCCACCCTTAGG
NM_000518.4:c.93-17_93delinsTATTTTCCCACCCTTAGG
NM_000518.5:c.93-17_93delinsTATTTTCCCACCCTTAGG