Canonical Allele Identifier: CA2580098299

Gene: GNAS GNAS-AS1

Linked Data

• ClinVar Variation Id: 1706317
• ClinVar RCV Id: RCV002284847

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840576_58840580dup , CM000682.2:g.58840576_58840580dup	GRCh38
NC_000020.10:g.57415631_57415635dup , CM000682.1:g.57415631_57415635dup	GRCh37
NC_000020.9:g.56849026_56849030dup	NCBI36
NG_016194.1:g.5837_5841dup
NG_021433.1:g.15326_15330dup
NG_016194.2:g.5837_5841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.470_474dup (GNAS)	ENSP00000416234.2:p.Leu159SerfsTer?
ENST00000453292.7:c.470_474dup (GNAS)	ENSP00000392000.2:p.Leu159SerfsTer?
ENST00000419558.6:c.470_474dup (GNAS)	ENSP00000416234.2:p.Leu159SerfsTer?
ENST00000453292.6:c.470_474dup (GNAS)	ENSP00000392000.2:p.Leu159SerfsTer?
ENST00000657090.1:c.-39+636_-39+640dup (GNAS)	ENSP00000499380.1:n.-39+636_-39+640dup
ENST00000667293.1:c.-27-274_-27-270dup (GNAS)	ENSP00000499293.1:n.-27-274_-27-270dup
ENST00000313949.11:c.470_474dup (GNAS)	ENSP00000323571.7:p.Leu159SerfsTer?
ENST00000371075.7:c.470_474dup (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Leu159SerfsTer?
ENST00000371098.6:c.470_474dup (GNAS)	ENSP00000360139.2:p.Leu159SerfsTer?
ENST00000419558.5:c.73_77dup (GNAS)
ENST00000453292.5:c.233_237dup (GNAS)	ENSP00000392000.1:p.Leu80SerfsTer?
NM_016592.2:c.470_474dup (GNAS)	NP_057676.1:p.Leu159SerfsTer?
NM_016592.3:c.470_474dup (GNAS)	NP_057676.1:p.Leu159SerfsTer?
NR_002785.2:n.819+1359_819+1363dup (GNAS-AS1)
XM_017027821.1:c.470_474dup (GNAS)	XP_016883310.1:p.Leu159SerfsTer?
XM_017027822.1:c.470_474dup (GNAS)	XP_016883311.1:p.Leu159SerfsTer?
XM_024451872.1:c.-268_-264dup (GNAS)	XP_024307640.1:n.-268_-264dup
NM_016592.4:c.470_474dup (GNAS)	NP_057676.1:p.Leu159SerfsTer?
NM_016592.5:c.470_474dup (GNAS) MANE Plus Clinical	NP_057676.1:p.Leu159SerfsTer?