Canonical Allele Identifier: CA1018916397

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v3: 20-58840591-G-GTC
• gnomAD v4: 20-58840591-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840593_58840594dup , CM000682.2:g.58840593_58840594dup	GRCh38
NC_000020.10:g.57415648_57415649dup , CM000682.1:g.57415648_57415649dup	GRCh37
NC_000020.9:g.56849043_56849044dup	NCBI36
NG_016194.1:g.5854_5855dup
NG_021433.1:g.15311_15312dup
NG_016194.2:g.5854_5855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.487_488dup (GNAS)	ENSP00000416234.2:p.His164CysfsTer?
ENST00000453292.7:c.487_488dup (GNAS)	ENSP00000392000.2:p.His164CysfsTer?
ENST00000419558.6:c.487_488dup (GNAS)	ENSP00000416234.2:p.His164CysfsTer?
ENST00000453292.6:c.487_488dup (GNAS)	ENSP00000392000.2:p.His164CysfsTer?
ENST00000657090.1:c.-39+653_-39+654dup (GNAS)	ENSP00000499380.1:n.-39+653_-39+654dup
ENST00000667293.1:c.-27-257_-27-256dup (GNAS)	ENSP00000499293.1:n.-27-257_-27-256dup
ENST00000313949.11:c.487_488dup (GNAS)	ENSP00000323571.7:p.His164CysfsTer?
ENST00000371075.7:c.487_488dup (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.His164CysfsTer?
ENST00000371098.6:c.487_488dup (GNAS)	ENSP00000360139.2:p.His164CysfsTer?
ENST00000419558.5:c.90_91dup (GNAS)
ENST00000453292.5:c.250_251dup (GNAS)	ENSP00000392000.1:p.His85CysfsTer?
NM_016592.2:c.487_488dup (GNAS)	NP_057676.1:p.His164CysfsTer?
NM_016592.3:c.487_488dup (GNAS)	NP_057676.1:p.His164CysfsTer?
NR_002785.2:n.819+1344_819+1345dup (GNAS-AS1)
XM_017027821.1:c.487_488dup (GNAS)	XP_016883310.1:p.His164CysfsTer?
XM_017027822.1:c.487_488dup (GNAS)	XP_016883311.1:p.His164CysfsTer?
XM_024451872.1:c.-251_-250dup (GNAS)	XP_024307640.1:n.-251_-250dup
NM_016592.4:c.487_488dup (GNAS)	NP_057676.1:p.His164CysfsTer?
NM_016592.5:c.487_488dup (GNAS) MANE Plus Clinical	NP_057676.1:p.His164CysfsTer?