Canonical Allele Identifier: CA1949570725

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT , CM000673.2:g.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT	GRCh38
NC_000011.9:g.5248206_5248232delinsACAGGGCAGTAACGGCAGACTTCTCCT , CM000673.1:g.5248206_5248232delinsACAGGGCAGTAACGGCAGACTTCTCCT	GRCh37
NC_000011.8:g.5204782_5204808delinsACAGGGCAGTAACGGCAGACTTCTCCT	NCBI36
NG_000007.3:g.70614_70640delinsAGGAGAAGTCTGCCGTTACTGCCCTGT
NG_059281.1:g.5070_5096delinsAGGAGAAGTCTGCCGTTACTGCCCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT	ENSP00000494175.1:p.Glu7=
ENST00000335295.4:c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT MANE Select	ENSP00000333994.3:p.Glu7=
ENST00000380315.2:c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT	ENSP00000369671.2:p.Glu7=
ENST00000485743.1:n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT
ENST00000633227.1:c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT	ENSP00000488004.1:p.Glu7=
NM_000518.4:c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT	NP_000509.1:p.Glu7=
NM_000518.5:c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT MANE Select	NP_000509.1:p.Glu7=