Linked Data
dbSNP Id:
rs760317470
ExAC:
20:57415963 TG / T
gnomAD v2:
20-57415963-TG-T
gnomAD v4:
20-58840908-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840912del , CM000682.2:g.58840912del | GRCh38 |
| NC_000020.10:g.57415967del , CM000682.1:g.57415967del | GRCh37 |
| NC_000020.9:g.56849362del | NCBI36 |
| NG_016194.1:g.6173del | |
| NG_021433.1:g.14995del | |
| NG_016194.2:g.6173del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.*42+26del (GNAS) | ENSP00000416234.2:n.*42+26del | |
| ENST00000453292.7:c.780+26del (GNAS) | ENSP00000392000.2:n.780+26del | |
| ENST00000306090.12:c.43+26del (GNAS) | ENSP00000304472.12:n.43+26del | |
| ENST00000419558.6:c.*42+26del (GNAS) | ENSP00000416234.2:n.*42+26del | |
| ENST00000453292.6:c.*42+26del (GNAS) | ENSP00000392000.2:n.*42+26del | |
| ENST00000657090.1:c.-39+972del (GNAS) | ENSP00000499380.1:n.-39+972del | |
| ENST00000667293.1:c.10+26del (GNAS) | ENSP00000499293.1:n.10+26del | |
| ENST00000313949.11:c.*42+26del (GNAS) | ENSP00000323571.7:n.*42+26del | |
| ENST00000371075.7:c.*42+26del (GNAS) MANE Plus Clinical | ENSP00000360115.3:n.*42+26del | |
| ENST00000371098.6:c.*42+26del (GNAS) | ENSP00000360139.2:n.*42+26del | |
| ENST00000419558.5:c.383+26del (GNAS) | ||
| ENST00000453292.5:c.543+26del (GNAS) | ENSP00000392000.1:n.543+26del | |
| NM_016592.2:c.*42+26del (GNAS) | NP_057676.1:n.*42+26del | |
| NM_016592.3:c.*42+26del (GNAS) | NP_057676.1:n.*42+26del | |
| NR_002785.2:n.819+1028del (GNAS-AS1) | ||
| XM_017027815.1:c.43+26del (GNAS) | XP_016883304.1:n.43+26del | |
| XM_017027821.1:c.*42+26del (GNAS) | XP_016883310.1:n.*42+26del | |
| XM_017027822.1:c.*42+26del (GNAS) | XP_016883311.1:n.*42+26del | |
| XM_024451872.1:c.43+26del (GNAS) | XP_024307640.1:n.43+26del | |
| NM_016592.4:c.*42+26del (GNAS) | NP_057676.1:n.*42+26del | |
| NM_016592.5:c.*42+26del (GNAS) MANE Plus Clinical | NP_057676.1:n.*42+26del |