Canonical Allele Identifier: CA9926315
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1696617
ClinVar RCV Id: RCV002266747
dbSNP Id: rs778192531

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840496_58840531del , CM000682.2:g.58840496_58840531del GRCh38
NC_000020.10:g.57415551_57415586del , CM000682.1:g.57415551_57415586del GRCh37
NC_000020.9:g.56848946_56848981del NCBI36
NG_016194.1:g.5757_5792del
NG_021433.1:g.15388_15423del
NG_016194.2:g.5757_5792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.390_425del (GNAS) ENSP00000416234.2:p.Thr131_Glu142del
ENST00000453292.7:c.390_425del (GNAS) ENSP00000392000.2:p.Thr131_Glu142del
ENST00000419558.6:c.390_425del (GNAS) ENSP00000416234.2:p.Thr131_Glu142del
ENST00000453292.6:c.390_425del (GNAS) ENSP00000392000.2:p.Thr131_Glu142del
ENST00000657090.1:c.-39+556_-39+591del (GNAS) ENSP00000499380.1:n.-39+556_-39+591del
ENST00000667293.1:c.-27-354_-27-319del (GNAS) ENSP00000499293.1:n.-27-354_-27-319del
ENST00000313949.11:c.390_425del (GNAS) ENSP00000323571.7:p.Thr131_Glu142del
ENST00000371075.7:c.390_425del (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Thr131_Glu142del
ENST00000371098.6:c.390_425del (GNAS) ENSP00000360139.2:p.Thr131_Glu142del
ENST00000453292.5:c.153_188del (GNAS) ENSP00000392000.1:p.Thr52_Glu63del
NM_016592.2:c.390_425del (GNAS) NP_057676.1:p.Thr131_Glu142del
NM_016592.3:c.390_425del (GNAS) NP_057676.1:p.Thr131_Glu142del
NR_002785.2:n.819+1421_819+1456del (GNAS-AS1)
XM_017027821.1:c.390_425del (GNAS) XP_016883310.1:p.Thr131_Glu142del
XM_017027822.1:c.390_425del (GNAS) XP_016883311.1:p.Thr131_Glu142del
XM_024451872.1:c.-348_-313del (GNAS) XP_024307640.1:n.-348_-313del
NM_016592.4:c.390_425del (GNAS) NP_057676.1:p.Thr131_Glu142del
NM_016592.5:c.390_425del (GNAS) MANE Plus Clinical NP_057676.1:p.Thr131_Glu142del