Canonical Allele Identifier: CA2372495549
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840847_58840848delinsGA , CM000682.2:g.58840847_58840848delinsGA GRCh38
NC_000020.10:g.57415902_57415903delinsGA , CM000682.1:g.57415902_57415903delinsGA GRCh37
NC_000020.9:g.56849297_56849298delinsGA NCBI36
NG_016194.1:g.6108_6109delinsGA
NG_021433.1:g.15056_15057delinsTC
NG_016194.2:g.6108_6109delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.*3_*4delinsGA (GNAS) ENSP00000416234.2:n.*3_*4delinsGA
ENST00000453292.7:c.741_742delinsGA (GNAS) ENSP00000392000.2:n.741_742delinsGA
ENST00000306090.12:c.4_5delinsGA (GNAS) ENSP00000304472.12:p.Glu2=
ENST00000419558.6:c.*3_*4delinsGA (GNAS) ENSP00000416234.2:n.*3_*4delinsGA
ENST00000453292.6:c.*3_*4delinsGA (GNAS) ENSP00000392000.2:n.*3_*4delinsGA
ENST00000657090.1:c.-39+907_-39+908delinsGA (GNAS) ENSP00000499380.1:n.-39+907_-39+908delinsGA
ENST00000667293.1:c.-27-3_-27-2delinsGA (GNAS) ENSP00000499293.1:n.-27-3_-27-2delinsGA
ENST00000313949.11:c.*3_*4delinsGA (GNAS) ENSP00000323571.7:n.*3_*4delinsGA
ENST00000371075.7:c.*3_*4delinsGA (GNAS) MANE Plus Clinical ENSP00000360115.3:n.*3_*4delinsGA
ENST00000371098.6:c.*3_*4delinsGA (GNAS) ENSP00000360139.2:n.*3_*4delinsGA
ENST00000419558.5:c.344_345delinsGA (GNAS)
ENST00000453292.5:c.504_505delinsGA (GNAS) ENSP00000392000.1:n.504_505delinsGA
NM_016592.2:c.*3_*4delinsGA (GNAS) NP_057676.1:n.*3_*4delinsGA
NM_016592.3:c.*3_*4delinsGA (GNAS) NP_057676.1:n.*3_*4delinsGA
NR_002785.2:n.819+1089_819+1090delinsTC (GNAS-AS1)
XM_017027815.1:c.4_5delinsGA (GNAS) XP_016883304.1:p.Glu2=
XM_017027821.1:c.*3_*4delinsGA (GNAS) XP_016883310.1:n.*3_*4delinsGA
XM_017027822.1:c.*3_*4delinsGA (GNAS) XP_016883311.1:n.*3_*4delinsGA
XM_024451872.1:c.4_5delinsGA (GNAS) XP_024307640.1:p.Glu2=
NM_016592.4:c.*3_*4delinsGA (GNAS) NP_057676.1:n.*3_*4delinsGA
NM_016592.5:c.*3_*4delinsGA (GNAS) MANE Plus Clinical NP_057676.1:n.*3_*4delinsGA