Canonical Allele Identifier: CA1949565842

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225895_5225911delinsAATATTTATATGCAGAG , CM000673.2:g.5225895_5225911delinsAATATTTATATGCAGAG	GRCh38
NC_000011.9:g.5247125_5247141delinsAATATTTATATGCAGAG , CM000673.1:g.5247125_5247141delinsAATATTTATATGCAGAG	GRCh37
NC_000011.8:g.5203701_5203717delinsAATATTTATATGCAGAG	NCBI36
NG_000007.3:g.71705_71721delinsCTCTGCATATAAATATT
NG_059281.1:g.6161_6177delinsCTCTGCATATAAATATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-185_316-169delinsCTCTGCATATAAATATT	ENSP00000494175.1:n.316-185_316-169delinsCTCTGCATATAAATATT
ENST00000335295.4:c.316-185_316-169delinsCTCTGCATATAAATATT MANE Select	ENSP00000333994.3:n.316-185_316-169delinsCTCTGCATATAAATATT
ENST00000475226.1:n.248-185_248-169delinsCTCTGCATATAAATATT
ENST00000633227.1:c.*132-185_*132-169delinsCTCTGCATATAAATATT	ENSP00000488004.1:n.*132-185_*132-169delinsCTCTGCATATAAATATT
NM_000518.4:c.316-185_316-169delinsCTCTGCATATAAATATT	NP_000509.1:n.316-185_316-169delinsCTCTGCATATAAATATT
NM_000518.5:c.316-185_316-169delinsCTCTGCATATAAATATT MANE Select	NP_000509.1:n.316-185_316-169delinsCTCTGCATATAAATATT