Canonical Allele Identifier: CA2372495562
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840858_58840875delinsCCAGATTCTCCTTGTTTT , CM000682.2:g.58840858_58840875delinsCCAGATTCTCCTTGTTTT GRCh38
NC_000020.10:g.57415913_57415930delinsCCAGATTCTCCTTGTTTT , CM000682.1:g.57415913_57415930delinsCCAGATTCTCCTTGTTTT GRCh37
NC_000020.9:g.56849308_56849325delinsCCAGATTCTCCTTGTTTT NCBI36
NG_016194.1:g.6119_6136delinsCCAGATTCTCCTTGTTTT
NG_021433.1:g.15029_15046delinsAAAACAAGGAGAATCTGG
NG_016194.2:g.6119_6136delinsCCAGATTCTCCTTGTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000416234.2:n.*14_*31delinsCCAGATTCTCCTTGTTTT
ENST00000453292.7:c.752_769delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000392000.2:n.752_769delinsCCAGATTCTCCTTGTTTT
ENST00000306090.12:c.15_32delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000304472.12:p.Val5=
ENST00000419558.6:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000416234.2:n.*14_*31delinsCCAGATTCTCCTTGTTTT
ENST00000453292.6:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000392000.2:n.*14_*31delinsCCAGATTCTCCTTGTTTT
ENST00000657090.1:c.-39+918_-39+935delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000499380.1:n.-39+918_-39+935delinsCCAGATTCTCCTTGTTTT
ENST00000667293.1:c.-19_-2delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000499293.1:n.-19_-2delinsCCAGATTCTCCTTGTTTT
ENST00000313949.11:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000323571.7:n.*14_*31delinsCCAGATTCTCCTTGTTTT
ENST00000371075.7:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) MANE Plus Clinical ENSP00000360115.3:n.*14_*31delinsCCAGATTCTCCTTGTTTT
ENST00000371098.6:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000360139.2:n.*14_*31delinsCCAGATTCTCCTTGTTTT
ENST00000419558.5:c.355_372delinsCCAGATTCTCCTTGTTTT (GNAS)
ENST00000453292.5:c.515_532delinsCCAGATTCTCCTTGTTTT (GNAS) ENSP00000392000.1:n.515_532delinsCCAGATTCTCCTTGTTTT
NM_016592.2:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) NP_057676.1:n.*14_*31delinsCCAGATTCTCCTTGTTTT
NM_016592.3:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) NP_057676.1:n.*14_*31delinsCCAGATTCTCCTTGTTTT
NR_002785.2:n.819+1062_819+1079delinsAAAACAAGGAGAATCTGG (GNAS-AS1)
XM_017027815.1:c.15_32delinsCCAGATTCTCCTTGTTTT (GNAS) XP_016883304.1:p.Val5=
XM_017027821.1:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) XP_016883310.1:n.*14_*31delinsCCAGATTCTCCTTGTTTT
XM_017027822.1:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) XP_016883311.1:n.*14_*31delinsCCAGATTCTCCTTGTTTT
XM_024451872.1:c.15_32delinsCCAGATTCTCCTTGTTTT (GNAS) XP_024307640.1:p.Val5=
NM_016592.4:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) NP_057676.1:n.*14_*31delinsCCAGATTCTCCTTGTTTT
NM_016592.5:c.*14_*31delinsCCAGATTCTCCTTGTTTT (GNAS) MANE Plus Clinical NP_057676.1:n.*14_*31delinsCCAGATTCTCCTTGTTTT