Canonical Allele Identifier: CA9926321

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs757317986
• ExAC: 20:57415558 CCCA / C
• gnomAD v2: 20-57415558-CCCA-C
• gnomAD v3: 20-58840503-CCCA-C
• gnomAD v4: 20-58840503-CCCA-C
• MyVariant Identifiers: chr20:g.57415559_57415561del (hg19) ; chr20:g.58840504_58840506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840508_58840510del , CM000682.2:g.58840508_58840510del	GRCh38
NC_000020.10:g.57415563_57415565del , CM000682.1:g.57415563_57415565del	GRCh37
NC_000020.9:g.56848958_56848960del	NCBI36
NG_016194.1:g.5769_5771del
NG_021433.1:g.15398_15400del
NG_016194.2:g.5769_5771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.402_404del (GNAS)	ENSP00000416234.2:p.Thr135del
ENST00000453292.7:c.402_404del (GNAS)	ENSP00000392000.2:p.Thr135del
ENST00000419558.6:c.402_404del (GNAS)	ENSP00000416234.2:p.Thr135del
ENST00000453292.6:c.402_404del (GNAS)	ENSP00000392000.2:p.Thr135del
ENST00000657090.1:c.-39+568_-39+570del (GNAS)	ENSP00000499380.1:n.-39+568_-39+570del
ENST00000667293.1:c.-27-342_-27-340del (GNAS)	ENSP00000499293.1:n.-27-342_-27-340del
ENST00000313949.11:c.402_404del (GNAS)	ENSP00000323571.7:p.Thr135del
ENST00000371075.7:c.402_404del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Thr135del
ENST00000371098.6:c.402_404del (GNAS)	ENSP00000360139.2:p.Thr135del
ENST00000419558.5:c.5_7del (GNAS)
ENST00000453292.5:c.165_167del (GNAS)	ENSP00000392000.1:p.Thr56del
NM_016592.2:c.402_404del (GNAS)	NP_057676.1:p.Thr135del
NM_016592.3:c.402_404del (GNAS)	NP_057676.1:p.Thr135del
NR_002785.2:n.819+1431_819+1433del (GNAS-AS1)
XM_017027821.1:c.402_404del (GNAS)	XP_016883310.1:p.Thr135del
XM_017027822.1:c.402_404del (GNAS)	XP_016883311.1:p.Thr135del
XM_024451872.1:c.-336_-334del (GNAS)	XP_024307640.1:n.-336_-334del
NM_016592.4:c.402_404del (GNAS)	NP_057676.1:p.Thr135del
NM_016592.5:c.402_404del (GNAS) MANE Plus Clinical	NP_057676.1:p.Thr135del