Canonical Allele Identifier: CA2816857153

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840609_58840634del , CM000682.2:g.58840609_58840634del	GRCh38
NC_000020.10:g.57415664_57415689del , CM000682.1:g.57415664_57415689del	GRCh37
NC_000020.9:g.56849059_56849084del	NCBI36
NG_016194.1:g.5870_5895del
NG_021433.1:g.15275_15300del
NG_016194.2:g.5870_5895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.503_528del (GNAS)	ENSP00000416234.2:p.Leu168SerfsTer?
ENST00000453292.7:c.503_528del (GNAS)	ENSP00000392000.2:p.Leu168SerfsTer?
ENST00000419558.6:c.503_528del (GNAS)	ENSP00000416234.2:p.Leu168SerfsTer?
ENST00000453292.6:c.503_528del (GNAS)	ENSP00000392000.2:p.Leu168SerfsTer?
ENST00000657090.1:c.-39+669_-39+694del (GNAS)	ENSP00000499380.1:n.-39+669_-39+694del
ENST00000667293.1:c.-27-241_-27-216del (GNAS)	ENSP00000499293.1:n.-27-241_-27-216del
ENST00000313949.11:c.503_528del (GNAS)	ENSP00000323571.7:p.Leu168SerfsTer?
ENST00000371075.7:c.503_528del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Leu168SerfsTer?
ENST00000371098.6:c.503_528del (GNAS)	ENSP00000360139.2:p.Leu168SerfsTer?
ENST00000419558.5:c.106_131del (GNAS)
ENST00000453292.5:c.266_291del (GNAS)	ENSP00000392000.1:p.Leu89SerfsTer?
NM_016592.2:c.503_528del (GNAS)	NP_057676.1:p.Leu168SerfsTer?
NM_016592.3:c.503_528del (GNAS)	NP_057676.1:p.Leu168SerfsTer?
NR_002785.2:n.819+1308_819+1333del (GNAS-AS1)
XM_017027821.1:c.503_528del (GNAS)	XP_016883310.1:p.Leu168SerfsTer?
XM_017027822.1:c.503_528del (GNAS)	XP_016883311.1:p.Leu168SerfsTer?
XM_024451872.1:c.-235_-210del (GNAS)	XP_024307640.1:n.-235_-210del
NM_016592.4:c.503_528del (GNAS)	NP_057676.1:p.Leu168SerfsTer?
NM_016592.5:c.503_528del (GNAS) MANE Plus Clinical	NP_057676.1:p.Leu168SerfsTer?