Canonical Allele Identifier: CA9926332

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs781445157
• ExAC: 20:57415590 C / CCGAGCCTGAA
• gnomAD v2: 20-57415590-C-CCGAGCCTGAA
• gnomAD v4: 20-58840535-C-CCGAGCCTGAA
• MyVariant Identifiers: chr20:g.57415590_57415591insCGAGCCTGAA (hg19) ; chr20:g.58840535_58840536insCGAGCCTGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840535_58840536insCGAGCCTGAA , CM000682.2:g.58840535_58840536insCGAGCCTGAA	GRCh38
NC_000020.10:g.57415590_57415591insCGAGCCTGAA , CM000682.1:g.57415590_57415591insCGAGCCTGAA	GRCh37
NC_000020.9:g.56848985_56848986insCGAGCCTGAA	NCBI36
NG_016194.1:g.5796_5797insCGAGCCTGAA
NG_021433.1:g.15368_15369insTTCAGGCTCG
NG_016194.2:g.5796_5797insCGAGCCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.429_430insCGAGCCTGAA (GNAS)	ENSP00000416234.2:p.Asp144ArgfsTer3
ENST00000453292.7:c.429_430insCGAGCCTGAA (GNAS)	ENSP00000392000.2:p.Asp144ArgfsTer3
ENST00000419558.6:c.429_430insCGAGCCTGAA (GNAS)	ENSP00000416234.2:p.Asp144ArgfsTer3
ENST00000453292.6:c.429_430insCGAGCCTGAA (GNAS)	ENSP00000392000.2:p.Asp144ArgfsTer3
ENST00000657090.1:c.-39+595_-39+596insCGAGCCTGAA (GNAS)	ENSP00000499380.1:n.-39+595_-39+596insCGAGCCTGAA
ENST00000667293.1:c.-27-315_-27-314insCGAGCCTGAA (GNAS)	ENSP00000499293.1:n.-27-315_-27-314insCGAGCCTGAA
ENST00000313949.11:c.429_430insCGAGCCTGAA (GNAS)	ENSP00000323571.7:p.Asp144ArgfsTer3
ENST00000371075.7:c.429_430insCGAGCCTGAA (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Asp144ArgfsTer3
ENST00000371098.6:c.429_430insCGAGCCTGAA (GNAS)	ENSP00000360139.2:p.Asp144ArgfsTer3
ENST00000419558.5:c.32_33insCGAGCCTGAA (GNAS)
ENST00000453292.5:c.192_193insCGAGCCTGAA (GNAS)	ENSP00000392000.1:p.Asp65ArgfsTer3
NM_016592.2:c.429_430insCGAGCCTGAA (GNAS)	NP_057676.1:p.Asp144ArgfsTer3
NM_016592.3:c.429_430insCGAGCCTGAA (GNAS)	NP_057676.1:p.Asp144ArgfsTer3
NR_002785.2:n.819+1401_819+1402insTTCAGGCTCG (GNAS-AS1)
XM_017027821.1:c.429_430insCGAGCCTGAA (GNAS)	XP_016883310.1:p.Asp144ArgfsTer3
XM_017027822.1:c.429_430insCGAGCCTGAA (GNAS)	XP_016883311.1:p.Asp144ArgfsTer3
XM_024451872.1:c.-309_-308insCGAGCCTGAA (GNAS)	XP_024307640.1:n.-309_-308insCGAGCCTGAA
NM_016592.4:c.429_430insCGAGCCTGAA (GNAS)	NP_057676.1:p.Asp144ArgfsTer3
NM_016592.5:c.429_430insCGAGCCTGAA (GNAS) MANE Plus Clinical	NP_057676.1:p.Asp144ArgfsTer3