Canonical Allele Identifier: CA2372495525

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840794_58840795delinsTC , CM000682.2:g.58840794_58840795delinsTC	GRCh38
NC_000020.10:g.57415849_57415850delinsTC , CM000682.1:g.57415849_57415850delinsTC	GRCh37
NC_000020.9:g.56849244_56849245delinsTC	NCBI36
NG_016194.1:g.6055_6056delinsTC
NG_021433.1:g.15109_15110delinsGA
NG_016194.2:g.6055_6056delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.688_689delinsTC (GNAS)	ENSP00000416234.2:p.Ser230=
ENST00000453292.7:c.688_689delinsTC (GNAS)	ENSP00000392000.2:p.Ser230=
ENST00000419558.6:c.688_689delinsTC (GNAS)	ENSP00000416234.2:p.Ser230=
ENST00000453292.6:c.688_689delinsTC (GNAS)	ENSP00000392000.2:p.Ser230=
ENST00000657090.1:c.-39+854_-39+855delinsTC (GNAS)	ENSP00000499380.1:n.-39+854_-39+855delinsTC
ENST00000667293.1:c.-27-56_-27-55delinsTC (GNAS)	ENSP00000499293.1:n.-27-56_-27-55delinsTC
ENST00000313949.11:c.688_689delinsTC (GNAS)	ENSP00000323571.7:p.Ser230=
ENST00000371075.7:c.688_689delinsTC (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Ser230=
ENST00000371098.6:c.688_689delinsTC (GNAS)	ENSP00000360139.2:p.Ser230=
ENST00000419558.5:c.291_292delinsTC (GNAS)
ENST00000453292.5:c.451_452delinsTC (GNAS)	ENSP00000392000.1:p.Ser151=
NM_016592.2:c.688_689delinsTC (GNAS)	NP_057676.1:p.Ser230=
NM_016592.3:c.688_689delinsTC (GNAS)	NP_057676.1:p.Ser230=
NR_002785.2:n.819+1142_819+1143delinsGA (GNAS-AS1)
XM_017027821.1:c.688_689delinsTC (GNAS)	XP_016883310.1:p.Ser230=
XM_017027822.1:c.688_689delinsTC (GNAS)	XP_016883311.1:p.Ser230=
XM_024451872.1:c.-50_-49delinsTC (GNAS)	XP_024307640.1:n.-50_-49delinsTC
NM_016592.4:c.688_689delinsTC (GNAS)	NP_057676.1:p.Ser230=
NM_016592.5:c.688_689delinsTC (GNAS) MANE Plus Clinical	NP_057676.1:p.Ser230=