Canonical Allele Identifier: CA9926357

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs774037468
• ExAC: 20:57415707 TCAG / T
• MyVariant Identifiers: chr20:g.57415708_57415710del (hg19) ; chr20:g.58840653_58840655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840653_58840655del , CM000682.2:g.58840653_58840655del	GRCh38
NC_000020.10:g.57415708_57415710del , CM000682.1:g.57415708_57415710del	GRCh37
NC_000020.9:g.56849103_56849105del	NCBI36
NG_016194.1:g.5914_5916del
NG_021433.1:g.15249_15251del
NG_016194.2:g.5914_5916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.547_549del (GNAS)	ENSP00000416234.2:p.Gln183del
ENST00000453292.7:c.547_549del (GNAS)	ENSP00000392000.2:p.Gln183del
ENST00000419558.6:c.547_549del (GNAS)	ENSP00000416234.2:p.Gln183del
ENST00000453292.6:c.547_549del (GNAS)	ENSP00000392000.2:p.Gln183del
ENST00000657090.1:c.-39+713_-39+715del (GNAS)	ENSP00000499380.1:n.-39+713_-39+715del
ENST00000667293.1:c.-27-197_-27-195del (GNAS)	ENSP00000499293.1:n.-27-197_-27-195del
ENST00000313949.11:c.547_549del (GNAS)	ENSP00000323571.7:p.Gln183del
ENST00000371075.7:c.547_549del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Gln183del
ENST00000371098.6:c.547_549del (GNAS)	ENSP00000360139.2:p.Gln183del
ENST00000419558.5:c.150_152del (GNAS)
ENST00000453292.5:c.310_312del (GNAS)	ENSP00000392000.1:p.Gln104del
NM_016592.2:c.547_549del (GNAS)	NP_057676.1:p.Gln183del
NM_016592.3:c.547_549del (GNAS)	NP_057676.1:p.Gln183del
NR_002785.2:n.819+1282_819+1284del (GNAS-AS1)
XM_017027821.1:c.547_549del (GNAS)	XP_016883310.1:p.Gln183del
XM_017027822.1:c.547_549del (GNAS)	XP_016883311.1:p.Gln183del
XM_024451872.1:c.-191_-189del (GNAS)	XP_024307640.1:n.-191_-189del
NM_016592.4:c.547_549del (GNAS)	NP_057676.1:p.Gln183del
NM_016592.5:c.547_549del (GNAS) MANE Plus Clinical	NP_057676.1:p.Gln183del