Canonical Allele Identifier: CA316326983

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840298_58840301del , CM000682.2:g.58840298_58840301del	GRCh38
NC_000020.10:g.57415353_57415356del , CM000682.1:g.57415353_57415356del	GRCh37
NC_000020.9:g.56848748_56848751del	NCBI36
NG_016194.1:g.5559_5562del
NG_021433.1:g.15606_15609del
NG_016194.2:g.5559_5562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.192_195del (GNAS)	ENSP00000416234.2:p.Phe64LeufsTer?
ENST00000453292.7:c.192_195del (GNAS)	ENSP00000392000.2:p.Phe64LeufsTer?
ENST00000419558.6:c.192_195del (GNAS)	ENSP00000416234.2:p.Phe64LeufsTer?
ENST00000453292.6:c.192_195del (GNAS)	ENSP00000392000.2:p.Phe64LeufsTer?
ENST00000657090.1:c.-39+358_-39+361del (GNAS)	ENSP00000499380.1:n.-39+358_-39+361del
ENST00000667293.1:c.-28+358_-28+361del (GNAS)	ENSP00000499293.1:n.-28+358_-28+361del
ENST00000313949.11:c.192_195del (GNAS)	ENSP00000323571.7:p.Phe64LeufsTer?
ENST00000371075.7:c.192_195del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Phe64LeufsTer?
ENST00000371098.6:c.192_195del (GNAS)	ENSP00000360139.2:p.Phe64LeufsTer?
NM_016592.2:c.192_195del (GNAS)	NP_057676.1:p.Phe64LeufsTer?
NM_016592.3:c.192_195del (GNAS)	NP_057676.1:p.Phe64LeufsTer?
NR_002785.2:n.819+1639_819+1642del (GNAS-AS1)
XM_017027821.1:c.192_195del (GNAS)	XP_016883310.1:p.Phe64LeufsTer?
XM_017027822.1:c.192_195del (GNAS)	XP_016883311.1:p.Phe64LeufsTer?
XM_024451872.1:c.-546_-543del (GNAS)	XP_024307640.1:n.-546_-543del
NM_016592.4:c.192_195del (GNAS)	NP_057676.1:p.Phe64LeufsTer?
NM_016592.5:c.192_195del (GNAS) MANE Plus Clinical	NP_057676.1:p.Phe64LeufsTer?