Canonical Allele Identifier: CA1949583380

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249215_5249216delinsTG , CM000673.2:g.5249215_5249216delinsTG GRCh38
NC_000011.9:g.5270445_5270446delinsTG , CM000673.1:g.5270445_5270446delinsTG GRCh37
NC_000011.8:g.5227021_5227022delinsTG NCBI36
NG_000007.3:g.48400_48401delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.315+152_315+153delinsCA (HBG1) MANE Select ENSP00000327431.4:n.315+152_315+153delinsCA
ENST00000642908.1:c.316-729_316-728delinsCA ENSP00000495346.1:n.316-729_316-728delinsCA
ENST00000647543.1:c.379-729_379-728delinsCA ENSP00000496470.1:n.379-729_379-728delinsCA
ENST00000648735.1:n.518_519delinsCA (HBG1)
ENST00000330597.3:c.315+152_315+153delinsCA (HBG1) ENSP00000327431.3:n.315+152_315+153delinsCA
ENST00000620888.4:c.316-729_316-728delinsCA (HBG2) ENSP00000479637.1:n.316-729_316-728delinsCA
ENST00000623781.1:c.43-156_43-155delinsTG ENSP00000485381.1:n.43-156_43-155delinsTG
ENST00000632727.1:c.*184+152_*184+153delinsCA (HBG1) ENSP00000488759.1:n.*184+152_*184+153delinsCA
NM_000559.2:c.315+152_315+153delinsCA (HBG1) NP_000550.2:n.315+152_315+153delinsCA
NM_000559.3:c.315+152_315+153delinsCA (HBG1) MANE Select NP_000550.2:n.315+152_315+153delinsCA