Canonical Allele Identifier: CA9926318

Gene: GNAS GNAS-AS1

Linked Data

• ClinVar Variation Id: 2506601
• ClinVar RCV Id: RCV003236970 ; RCV004538931
• dbSNP Id: rs747093000
• ExAC: 20:57415542 CGAGCCTGAGACCGCCCCCACCACT / C
• gnomAD v2: 20-57415542-CGAGCCTGAGACCGCCCCCACCACT-C
• gnomAD v3: 20-58840487-CGAGCCTGAGACCGCCCCCACCACT-C
• gnomAD v4: 20-58840487-CGAGCCTGAGACCGCCCCCACCACT-C
• COSMIC: COSM1412721
• MyVariant Identifiers: chr20:g.57415543_57415566del (hg19) ; chr20:g.58840488_58840511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840493_58840516del , CM000682.2:g.58840493_58840516del	GRCh38
NC_000020.10:g.57415548_57415571del , CM000682.1:g.57415548_57415571del	GRCh37
NC_000020.9:g.56848943_56848966del	NCBI36
NG_016194.1:g.5754_5777del
NG_021433.1:g.15393_15416del
NG_016194.2:g.5754_5777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.387_410del (GNAS)	ENSP00000416234.2:p.Glu130_Pro137del
ENST00000453292.7:c.387_410del (GNAS)	ENSP00000392000.2:p.Glu130_Pro137del
ENST00000419558.6:c.387_410del (GNAS)	ENSP00000416234.2:p.Glu130_Pro137del
ENST00000453292.6:c.387_410del (GNAS)	ENSP00000392000.2:p.Glu130_Pro137del
ENST00000657090.1:c.-39+553_-39+576del (GNAS)	ENSP00000499380.1:n.-39+553_-39+576del
ENST00000667293.1:c.-27-357_-27-334del (GNAS)	ENSP00000499293.1:n.-27-357_-27-334del
ENST00000313949.11:c.387_410del (GNAS)	ENSP00000323571.7:p.Glu130_Pro137del
ENST00000371075.7:c.387_410del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu130_Pro137del
ENST00000371098.6:c.387_410del (GNAS)	ENSP00000360139.2:p.Glu130_Pro137del
ENST00000453292.5:c.150_173del (GNAS)	ENSP00000392000.1:p.Glu51_Pro58del
NM_016592.2:c.387_410del (GNAS)	NP_057676.1:p.Glu130_Pro137del
NM_016592.3:c.387_410del (GNAS)	NP_057676.1:p.Glu130_Pro137del
NR_002785.2:n.819+1426_819+1449del (GNAS-AS1)
XM_017027821.1:c.387_410del (GNAS)	XP_016883310.1:p.Glu130_Pro137del
XM_017027822.1:c.387_410del (GNAS)	XP_016883311.1:p.Glu130_Pro137del
XM_024451872.1:c.-351_-328del (GNAS)	XP_024307640.1:n.-351_-328del
NM_016592.4:c.387_410del (GNAS)	NP_057676.1:p.Glu130_Pro137del
NM_016592.5:c.387_410del (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu130_Pro137del