Canonical Allele Identifier: CA2521652807

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840665_58840672dup , CM000682.2:g.58840665_58840672dup	GRCh38
NC_000020.10:g.57415720_57415727dup , CM000682.1:g.57415720_57415727dup	GRCh37
NC_000020.9:g.56849115_56849122dup	NCBI36
NG_016194.1:g.5926_5933dup
NG_021433.1:g.15241_15248dup
NG_016194.2:g.5926_5933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.559_566dup (GNAS)	ENSP00000416234.2:p.Glu190AlafsTer?
ENST00000453292.7:c.559_566dup (GNAS)	ENSP00000392000.2:p.Glu190AlafsTer?
ENST00000419558.6:c.559_566dup (GNAS)	ENSP00000416234.2:p.Glu190AlafsTer?
ENST00000453292.6:c.559_566dup (GNAS)	ENSP00000392000.2:p.Glu190AlafsTer?
ENST00000657090.1:c.-39+725_-39+732dup (GNAS)	ENSP00000499380.1:n.-39+725_-39+732dup
ENST00000667293.1:c.-27-185_-27-178dup (GNAS)	ENSP00000499293.1:n.-27-185_-27-178dup
ENST00000313949.11:c.559_566dup (GNAS)	ENSP00000323571.7:p.Glu190AlafsTer?
ENST00000371075.7:c.559_566dup (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu190AlafsTer?
ENST00000371098.6:c.559_566dup (GNAS)	ENSP00000360139.2:p.Glu190AlafsTer?
ENST00000419558.5:c.162_169dup (GNAS)
ENST00000453292.5:c.322_329dup (GNAS)	ENSP00000392000.1:p.Glu111AlafsTer?
NM_016592.2:c.559_566dup (GNAS)	NP_057676.1:p.Glu190AlafsTer?
NM_016592.3:c.559_566dup (GNAS)	NP_057676.1:p.Glu190AlafsTer?
NR_002785.2:n.819+1274_819+1281dup (GNAS-AS1)
XM_017027821.1:c.559_566dup (GNAS)	XP_016883310.1:p.Glu190AlafsTer?
XM_017027822.1:c.559_566dup (GNAS)	XP_016883311.1:p.Glu190AlafsTer?
XM_024451872.1:c.-179_-172dup (GNAS)	XP_024307640.1:n.-179_-172dup
NM_016592.4:c.559_566dup (GNAS)	NP_057676.1:p.Glu190AlafsTer?
NM_016592.5:c.559_566dup (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu190AlafsTer?