Canonical Allele Identifier: CA2372495424
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840594_58840598delinsTGCAC , CM000682.2:g.58840594_58840598delinsTGCAC GRCh38
NC_000020.10:g.57415649_57415653delinsTGCAC , CM000682.1:g.57415649_57415653delinsTGCAC GRCh37
NC_000020.9:g.56849044_56849048delinsTGCAC NCBI36
NG_016194.1:g.5855_5859delinsTGCAC
NG_021433.1:g.15306_15310delinsGTGCA
NG_016194.2:g.5855_5859delinsTGCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.488_492delinsTGCAC (GNAS) ENSP00000416234.2:p.Leu163=
ENST00000453292.7:c.488_492delinsTGCAC (GNAS) ENSP00000392000.2:p.Leu163=
ENST00000419558.6:c.488_492delinsTGCAC (GNAS) ENSP00000416234.2:p.Leu163=
ENST00000453292.6:c.488_492delinsTGCAC (GNAS) ENSP00000392000.2:p.Leu163=
ENST00000657090.1:c.-39+654_-39+658delinsTGCAC (GNAS) ENSP00000499380.1:n.-39+654_-39+658delinsTGCAC
ENST00000667293.1:c.-27-256_-27-252delinsTGCAC (GNAS) ENSP00000499293.1:n.-27-256_-27-252delinsTGCAC
ENST00000313949.11:c.488_492delinsTGCAC (GNAS) ENSP00000323571.7:p.Leu163=
ENST00000371075.7:c.488_492delinsTGCAC (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Leu163=
ENST00000371098.6:c.488_492delinsTGCAC (GNAS) ENSP00000360139.2:p.Leu163=
ENST00000419558.5:c.91_95delinsTGCAC (GNAS)
ENST00000453292.5:c.251_255delinsTGCAC (GNAS) ENSP00000392000.1:p.Leu84=
NM_016592.2:c.488_492delinsTGCAC (GNAS) NP_057676.1:p.Leu163=
NM_016592.3:c.488_492delinsTGCAC (GNAS) NP_057676.1:p.Leu163=
NR_002785.2:n.819+1339_819+1343delinsGTGCA (GNAS-AS1)
XM_017027821.1:c.488_492delinsTGCAC (GNAS) XP_016883310.1:p.Leu163=
XM_017027822.1:c.488_492delinsTGCAC (GNAS) XP_016883311.1:p.Leu163=
XM_024451872.1:c.-250_-246delinsTGCAC (GNAS) XP_024307640.1:n.-250_-246delinsTGCAC
NM_016592.4:c.488_492delinsTGCAC (GNAS) NP_057676.1:p.Leu163=
NM_016592.5:c.488_492delinsTGCAC (GNAS) MANE Plus Clinical NP_057676.1:p.Leu163=