Linked Data
ClinVar Variation Id:
2506601
dbSNP Id:
rs747093000
gnomAD v2:
20-57415542-CGAGCCTGAGACCGCCCCCACCACT-C
gnomAD v3:
20-58840487-CGAGCCTGAGACCGCCCCCACCACT-C
gnomAD v4:
20-58840487-CGAGCCTGAGACCGCCCCCACCACT-C
COSMIC:
COSM1412721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58840493_58840516del , CM000682.2:g.58840493_58840516del | GRCh38 |
| NC_000020.10:g.57415548_57415571del , CM000682.1:g.57415548_57415571del | GRCh37 |
| NC_000020.9:g.56848943_56848966del | NCBI36 |
| NG_016194.1:g.5754_5777del | |
| NG_021433.1:g.15393_15416del | |
| NG_016194.2:g.5754_5777del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419558.7:c.387_410del (GNAS) | ENSP00000416234.2:p.Glu130_Pro137del | |
| ENST00000453292.7:c.387_410del (GNAS) | ENSP00000392000.2:p.Glu130_Pro137del | |
| ENST00000419558.6:c.387_410del (GNAS) | ENSP00000416234.2:p.Glu130_Pro137del | |
| ENST00000453292.6:c.387_410del (GNAS) | ENSP00000392000.2:p.Glu130_Pro137del | |
| ENST00000657090.1:c.-39+553_-39+576del (GNAS) | ENSP00000499380.1:n.-39+553_-39+576del | |
| ENST00000667293.1:c.-27-357_-27-334del (GNAS) | ENSP00000499293.1:n.-27-357_-27-334del | |
| ENST00000313949.11:c.387_410del (GNAS) | ENSP00000323571.7:p.Glu130_Pro137del | |
| ENST00000371075.7:c.387_410del (GNAS) MANE Plus Clinical | ENSP00000360115.3:p.Glu130_Pro137del | |
| ENST00000371098.6:c.387_410del (GNAS) | ENSP00000360139.2:p.Glu130_Pro137del | |
| ENST00000453292.5:c.150_173del (GNAS) | ENSP00000392000.1:p.Glu51_Pro58del | |
| NM_016592.2:c.387_410del (GNAS) | NP_057676.1:p.Glu130_Pro137del | |
| NM_016592.3:c.387_410del (GNAS) | NP_057676.1:p.Glu130_Pro137del | |
| NR_002785.2:n.819+1426_819+1449del (GNAS-AS1) | ||
| XM_017027821.1:c.387_410del (GNAS) | XP_016883310.1:p.Glu130_Pro137del | |
| XM_017027822.1:c.387_410del (GNAS) | XP_016883311.1:p.Glu130_Pro137del | |
| XM_024451872.1:c.-351_-328del (GNAS) | XP_024307640.1:n.-351_-328del | |
| NM_016592.4:c.387_410del (GNAS) | NP_057676.1:p.Glu130_Pro137del | |
| NM_016592.5:c.387_410del (GNAS) MANE Plus Clinical | NP_057676.1:p.Glu130_Pro137del |