Canonical Allele Identifier: CA2653513894
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840809del , CM000682.2:g.58840809del GRCh38
NC_000020.10:g.57415864del , CM000682.1:g.57415864del GRCh37
NC_000020.9:g.56849259del NCBI36
NG_016194.1:g.6070del
NG_021433.1:g.15096del
NG_016194.2:g.6070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.703del (GNAS) ENSP00000416234.2:p.Ser235ProfsTer?
ENST00000453292.7:c.703del (GNAS) ENSP00000392000.2:p.Ser235ProfsTer?
ENST00000419558.6:c.703del (GNAS) ENSP00000416234.2:p.Ser235ProfsTer?
ENST00000453292.6:c.703del (GNAS) ENSP00000392000.2:p.Ser235ProfsTer?
ENST00000657090.1:c.-39+869del (GNAS) ENSP00000499380.1:n.-39+869del
ENST00000667293.1:c.-27-41del (GNAS) ENSP00000499293.1:n.-27-41del
ENST00000313949.11:c.703del (GNAS) ENSP00000323571.7:p.Ser235ProfsTer?
ENST00000371075.7:c.703del (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Ser235ProfsTer?
ENST00000371098.6:c.703del (GNAS) ENSP00000360139.2:p.Ser235ProfsTer?
ENST00000419558.5:c.306del (GNAS)
ENST00000453292.5:c.466del (GNAS) ENSP00000392000.1:p.Ser156ProfsTer?
NM_016592.2:c.703del (GNAS) NP_057676.1:p.Ser235ProfsTer?
NM_016592.3:c.703del (GNAS) NP_057676.1:p.Ser235ProfsTer?
NR_002785.2:n.819+1129del (GNAS-AS1)
XM_017027815.1:c.-35del (GNAS) XP_016883304.1:n.-35del
XM_017027821.1:c.703del (GNAS) XP_016883310.1:p.Ser235ProfsTer?
XM_017027822.1:c.703del (GNAS) XP_016883311.1:p.Ser235ProfsTer?
XM_024451872.1:c.-35del (GNAS) XP_024307640.1:n.-35del
NM_016592.4:c.703del (GNAS) NP_057676.1:p.Ser235ProfsTer?
NM_016592.5:c.703del (GNAS) MANE Plus Clinical NP_057676.1:p.Ser235ProfsTer?