Linked Data
dbSNP Id:
rs11413424
gnomAD v2:
14-35559061-A-AC
gnomAD v3:
14-35089855-A-AC
gnomAD v4:
14-35089855-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35089855_35089856insC , CM000676.2:g.35089855_35089856insC | GRCh38 |
| NC_000014.8:g.35559061_35559062insC , CM000676.1:g.35559061_35559062insC | GRCh37 |
| NC_000014.7:g.34628812_34628813insC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699514.1:c.*405-2239_*405-2238insC (FAM177A1) | ENSP00000514409.1:n.*405-2239_*405-2238in... | |
| ENST00000699515.1:c.*332-2239_*332-2238insC (FAM177A1) | ENSP00000514410.1:n.*332-2239_*332-2238in... | |
| ENST00000261475.10:c.1113+1214_1113+1215insG (PPP2R3C) MANE Select | ENSP00000261475.5:n.1113+1214_1113+1215in... | |
| ENST00000261475.9:c.1113+1214_1113+1215insG (PPP2R3C) | ENSP00000261475.5:n.1113+1214_1113+1215in... | |
| ENST00000553273.5:c.*779+1214_*779+1215insG (PPP2R3C) | ENSP00000451075.1:n.*779+1214_*779+1215in... | |
| ENST00000554222.5:c.*916+1214_*916+1215insG (PPP2R3C) | ENSP00000451416.1:n.*916+1214_*916+1215in... | |
| ENST00000555219.1:c.139-1846_139-1845insG (PPP2R3C) | ENSP00000452173.1:n.139-1846_139-1845insG... | |
| ENST00000555260.1:c.479+8296_479+8297insC (FAM177A1) | ||
| ENST00000557074.1:c.110+1214_110+1215insG (PPP2R3C) | ||
| ENST00000557217.5:c.*916+1214_*916+1215insG (PPP2R3C) | ENSP00000452436.1:n.*916+1214_*916+1215in... | |
| NM_001305155.1:c.783+1214_783+1215insG (PPP2R3C) | NP_001292084.1:n.783+1214_783+1215insG | |
| NM_001305156.1:c.783+1214_783+1215insG (PPP2R3C) | NP_001292085.1:n.783+1214_783+1215insG | |
| NM_017917.2:c.1113+1214_1113+1215insG (PPP2R3C) | NP_060387.2:n.1113+1214_1113+1215insG | |
| NM_017917.3:c.1113+1214_1113+1215insG (PPP2R3C) | NP_060387.2:n.1113+1214_1113+1215insG | |
| NR_110415.1:n.479+8296_479+8297insC | ||
| NR_130972.1:n.1312+1214_1312+1215insG (PPP2R3C) | ||
| XM_005267782.2:c.1113+1214_1113+1215insG (PPP2R3C) | XP_005267839.1:n.1113+1214_1113+1215insG | |
| XM_011536885.1:c.957+1214_957+1215insG (PPP2R3C) | XP_011535187.1:n.957+1214_957+1215insG | |
| XM_005267782.4:c.1113+1214_1113+1215insG (PPP2R3C) | XP_005267839.1:n.1113+1214_1113+1215insG | |
| XM_017021388.2:c.976-1846_976-1845insG (PPP2R3C) | XP_016876877.1:n.976-1846_976-1845insG | |
| XM_024449638.1:c.1020+1214_1020+1215insG (PPP2R3C) | XP_024305406.1:n.1020+1214_1020+1215insG | |
| XM_024449639.1:c.957+1214_957+1215insG (PPP2R3C) | XP_024305407.1:n.957+1214_957+1215insG | |
| XR_002957558.1:n.1439+1214_1439+1215insG (PPP2R3C) | ||
| NM_001305155.2:c.783+1214_783+1215insG (PPP2R3C) | NP_001292084.1:n.783+1214_783+1215insG | |
| NM_001305156.2:c.783+1214_783+1215insG (PPP2R3C) | NP_001292085.1:n.783+1214_783+1215insG | |
| NM_017917.4:c.1113+1214_1113+1215insG (PPP2R3C) MANE Select | NP_060387.2:n.1113+1214_1113+1215insG | |
| NR_130972.2:n.1067+1214_1067+1215insG (PPP2R3C) |