Canonical Allele Identifier: CA2503900539
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840853_58840854dup , CM000682.2:g.58840853_58840854dup GRCh38
NC_000020.10:g.57415908_57415909dup , CM000682.1:g.57415908_57415909dup GRCh37
NC_000020.9:g.56849303_56849304dup NCBI36
NG_016194.1:g.6114_6115dup
NG_021433.1:g.15051_15052dup
NG_016194.2:g.6114_6115dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.*9_*10dup (GNAS) ENSP00000416234.2:n.*9_*10dup
ENST00000453292.7:c.747_748dup (GNAS) ENSP00000392000.2:n.747_748dup
ENST00000306090.12:c.10_11dup (GNAS) ENSP00000304472.12:p.Val5ProfsTer22
ENST00000419558.6:c.*9_*10dup (GNAS) ENSP00000416234.2:n.*9_*10dup
ENST00000453292.6:c.*9_*10dup (GNAS) ENSP00000392000.2:n.*9_*10dup
ENST00000657090.1:c.-39+913_-39+914dup (GNAS) ENSP00000499380.1:n.-39+913_-39+914dup
ENST00000667293.1:c.-24_-23dup (GNAS) ENSP00000499293.1:n.-24_-23dup
ENST00000313949.11:c.*9_*10dup (GNAS) ENSP00000323571.7:n.*9_*10dup
ENST00000371075.7:c.*9_*10dup (GNAS) MANE Plus Clinical ENSP00000360115.3:n.*9_*10dup
ENST00000371098.6:c.*9_*10dup (GNAS) ENSP00000360139.2:n.*9_*10dup
ENST00000419558.5:c.350_351dup (GNAS)
ENST00000453292.5:c.510_511dup (GNAS) ENSP00000392000.1:n.510_511dup
NM_016592.2:c.*9_*10dup (GNAS) NP_057676.1:n.*9_*10dup
NM_016592.3:c.*9_*10dup (GNAS) NP_057676.1:n.*9_*10dup
NR_002785.2:n.819+1084_819+1085dup (GNAS-AS1)
XM_017027815.1:c.10_11dup (GNAS) XP_016883304.1:p.Val5ProfsTer22
XM_017027821.1:c.*9_*10dup (GNAS) XP_016883310.1:n.*9_*10dup
XM_017027822.1:c.*9_*10dup (GNAS) XP_016883311.1:n.*9_*10dup
XM_024451872.1:c.10_11dup (GNAS) XP_024307640.1:p.Val5ProfsTer22
NM_016592.4:c.*9_*10dup (GNAS) NP_057676.1:n.*9_*10dup
NM_016592.5:c.*9_*10dup (GNAS) MANE Plus Clinical NP_057676.1:n.*9_*10dup