Canonical Allele Identifier: CA2577436194

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840702_58840703del , CM000682.2:g.58840702_58840703del	GRCh38
NC_000020.10:g.57415757_57415758del , CM000682.1:g.57415757_57415758del	GRCh37
NC_000020.9:g.56849152_56849153del	NCBI36
NG_016194.1:g.5963_5964del
NG_021433.1:g.15202_15203del
NG_016194.2:g.5963_5964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.596_597del (GNAS)	ENSP00000416234.2:p.Lys199ArgfsTer29
ENST00000453292.7:c.596_597del (GNAS)	ENSP00000392000.2:p.Lys199ArgfsTer29
ENST00000419558.6:c.596_597del (GNAS)	ENSP00000416234.2:p.Lys199ArgfsTer29
ENST00000453292.6:c.596_597del (GNAS)	ENSP00000392000.2:p.Lys199ArgfsTer29
ENST00000657090.1:c.-39+762_-39+763del (GNAS)	ENSP00000499380.1:n.-39+762_-39+763del
ENST00000667293.1:c.-27-148_-27-147del (GNAS)	ENSP00000499293.1:n.-27-148_-27-147del
ENST00000313949.11:c.596_597del (GNAS)	ENSP00000323571.7:p.Lys199ArgfsTer29
ENST00000371075.7:c.596_597del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Lys199ArgfsTer29
ENST00000371098.6:c.596_597del (GNAS)	ENSP00000360139.2:p.Lys199ArgfsTer29
ENST00000419558.5:c.199_200del (GNAS)
ENST00000453292.5:c.359_360del (GNAS)	ENSP00000392000.1:p.Lys120ArgfsTer29
NM_016592.2:c.596_597del (GNAS)	NP_057676.1:p.Lys199ArgfsTer29
NM_016592.3:c.596_597del (GNAS)	NP_057676.1:p.Lys199ArgfsTer29
NR_002785.2:n.819+1235_819+1236del (GNAS-AS1)
XM_017027821.1:c.596_597del (GNAS)	XP_016883310.1:p.Lys199ArgfsTer29
XM_017027822.1:c.596_597del (GNAS)	XP_016883311.1:p.Lys199ArgfsTer29
XM_024451872.1:c.-142_-141del (GNAS)	XP_024307640.1:n.-142_-141del
NM_016592.4:c.596_597del (GNAS)	NP_057676.1:p.Lys199ArgfsTer29
NM_016592.5:c.596_597del (GNAS) MANE Plus Clinical	NP_057676.1:p.Lys199ArgfsTer29