Canonical Allele Identifier: CA2372495365
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840487_58840511delinsCGAGCCTGAGACCGCCCCCACCACT , CM000682.2:g.58840487_58840511delinsCGAGCCTGAGACCGCCCCCACCACT GRCh38
NC_000020.10:g.57415542_57415566delinsCGAGCCTGAGACCGCCCCCACCACT , CM000682.1:g.57415542_57415566delinsCGAGCCTGAGACCGCCCCCACCACT GRCh37
NC_000020.9:g.56848937_56848961delinsCGAGCCTGAGACCGCCCCCACCACT NCBI36
NG_016194.1:g.5748_5772delinsCGAGCCTGAGACCGCCCCCACCACT
NG_021433.1:g.15393_15417delinsAGTGGTGGGGGCGGTCTCAGGCTCG
NG_016194.2:g.5748_5772delinsCGAGCCTGAGACCGCCCCCACCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000416234.2:p.Thr127=
ENST00000453292.7:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000392000.2:p.Thr127=
ENST00000419558.6:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000416234.2:p.Thr127=
ENST00000453292.6:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000392000.2:p.Thr127=
ENST00000657090.1:c.-39+547_-39+571delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000499380.1:n.-39+547_-39+571delinsCGAGCCTGAGACCGCCCCCA...
ENST00000667293.1:c.-27-363_-27-339delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000499293.1:n.-27-363_-27-339delinsCGAGCCTGAGACCGCCCCCA...
ENST00000313949.11:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000323571.7:p.Thr127=
ENST00000371075.7:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Thr127=
ENST00000371098.6:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000360139.2:p.Thr127=
ENST00000453292.5:c.144_168delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) ENSP00000392000.1:p.Thr48=
NM_016592.2:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) NP_057676.1:p.Thr127=
NM_016592.3:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) NP_057676.1:p.Thr127=
NR_002785.2:n.819+1426_819+1450delinsAGTGGTGGGGGCGGTCTCAGGCTCG (GNAS-AS1)
XM_017027821.1:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) XP_016883310.1:p.Thr127=
XM_017027822.1:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) XP_016883311.1:p.Thr127=
XM_024451872.1:c.-357_-333delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) XP_024307640.1:n.-357_-333delinsCGAGCCTGAGACCGCCCCCACCACT
NM_016592.4:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) NP_057676.1:p.Thr127=
NM_016592.5:c.381_405delinsCGAGCCTGAGACCGCCCCCACCACT (GNAS) MANE Plus Clinical NP_057676.1:p.Thr127=