Linked Data
ClinVar Variation Id:
371077
ClinVar RCV Id:
RCV000409168
dbSNP Id:
rs1057516986
gnomAD v4:
1-46189940-GGAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189943_46189946del , CM000663.2:g.46189943_46189946del | GRCh38 |
| NC_000001.10:g.46655615_46655618del , CM000663.1:g.46655615_46655618del | GRCh37 |
| NC_000001.9:g.46428202_46428205del | NCBI36 |
| NG_009205.2:g.35362_35365del | |
| NG_009205.3:g.35362_35365del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396420.8:c.1695_1698del (POMGNT1) | ENSP00000379698.4:p.Phe566CysfsTer? | |
| ENST00000497439.6:n.1867_1870del (POMGNT1) | ||
| ENST00000684817.1:n.2055_2058del (POMGNT1) | ||
| ENST00000684898.1:n.2257_2260del (POMGNT1) | ||
| ENST00000685230.1:c.*1005_*1008del (POMGNT1) | ENSP00000510305.1:n.*1005_*1008del | |
| ENST00000685275.1:n.2242_2245del (POMGNT1) | ||
| ENST00000685444.1:c.1596_1599del (POMGNT1) | ENSP00000510762.1:p.Phe533CysfsTer? | |
| ENST00000685704.1:n.2361_2364del (POMGNT1) | ||
| ENST00000685833.1:n.4088_4091del (POMGNT1) | ||
| ENST00000686252.1:n.2769_2772del (POMGNT1) | ||
| ENST00000686379.1:c.*819_*822del (POMGNT1) | ENSP00000508913.1:n.*819_*822del | |
| ENST00000686724.1:n.3382_3385del (POMGNT1) | ||
| ENST00000686737.1:c.1695_1698del (POMGNT1) | ENSP00000508736.1:p.Phe566CysfsTer? | |
| ENST00000687112.1:n.2561_2564del (POMGNT1) | ||
| ENST00000687149.1:c.1734_1737del (POMGNT1) | ENSP00000509745.1:p.Phe579CysfsTer? | |
| ENST00000687197.1:c.*635_*638del (POMGNT1) | ENSP00000510749.1:n.*635_*638del | |
| ENST00000687235.1:n.3772_3775del (POMGNT1) | ||
| ENST00000687613.1:n.2335_2338del (POMGNT1) | ||
| ENST00000687683.1:c.1695_1698del (POMGNT1) | ENSP00000508522.1:p.Phe566CysfsTer? | |
| ENST00000688032.1:n.2232_2235del (POMGNT1) | ||
| ENST00000688596.1:n.2346_2349del (POMGNT1) | ||
| ENST00000688608.1:c.1596_1599del (POMGNT1) | ENSP00000508890.1:p.Phe533CysfsTer? | |
| ENST00000689031.1:n.2147_2150del (POMGNT1) | ||
| ENST00000689756.1:c.*1327_*1330del (POMGNT1) | ENSP00000509023.1:n.*1327_*1330del | |
| ENST00000690377.1:n.2042_2045del (POMGNT1) | ||
| ENST00000690678.1:c.1695_1698del (POMGNT1) | ENSP00000508703.1:p.Phe566CysfsTer? | |
| ENST00000691209.1:c.*635_*638del (POMGNT1) | ENSP00000510112.1:n.*635_*638del | |
| ENST00000691243.1:c.*86_*89del (POMGNT1) | ENSP00000510654.1:n.*86_*89del | |
| ENST00000692202.1:n.2270_2273del (POMGNT1) | ||
| ENST00000692322.1:c.*1482_*1485del (POMGNT1) | ENSP00000509017.1:n.*1482_*1485del | |
| ENST00000692369.1:c.1695_1698del (POMGNT1) | ENSP00000508453.1:p.Phe566CysfsTer? | |
| ENST00000692599.1:n.3570_3573del (POMGNT1) | ||
| ENST00000692635.1:c.*570_*573del (POMGNT1) | ENSP00000508425.1:n.*570_*573del | |
| ENST00000693168.1:n.3471_3474del (POMGNT1) | ||
| ENST00000693218.1:c.*256_*259del (POMGNT1) | ENSP00000510577.1:n.*256_*259del | |
| ENST00000693223.1:n.2643_2646del (POMGNT1) | ||
| ENST00000371984.8:c.1695_1698del (POMGNT1) MANE Select | ENSP00000361052.3:p.Phe566CysfsTer? | |
| ENST00000371984.7:c.1695_1698del (POMGNT1) | ENSP00000361052.3:p.Phe566CysfsTer? | |
| ENST00000371992.1:c.1695_1698del (POMGNT1) | ENSP00000361060.1:p.Phe566CysfsTer? | |
| ENST00000396420.7:c.*1364_*1367del (POMGNT1) | ENSP00000379698.3:n.*1364_*1367del | |
| ENST00000480972.1:n.344_347del (POMGNT1) | ||
| NM_001243766.1:c.1695_1698del (POMGNT1) | NP_001230695.1:p.Phe566CysfsTer? | |
| NM_001290129.1:c.1629_1632del (POMGNT1) | NP_001277058.1:p.Phe544CysfsTer? | |
| NM_001290130.1:c.1266_1269del (POMGNT1) | NP_001277059.1:p.Phe423CysfsTer? | |
| NM_017739.3:c.1695_1698del (POMGNT1) | NP_060209.3:p.Phe566CysfsTer? | |
| XM_005271010.1:c.1695_1698del (POMGNT1) | XP_005271067.1:p.Phe566CysfsTer? | |
| XM_006710755.1:c.1695_1698del (POMGNT1) | XP_006710818.1:p.Phe566CysfsTer? | |
| XM_006710756.1:c.1695_1698del (POMGNT1) | XP_006710819.1:p.Phe566CysfsTer? | |
| XM_011540460.1:c.678+4635_678+4638del (TSPAN1) | XP_011538762.1:n.678+4635_678+4638del | |
| XM_011540461.1:c.633+4635_633+4638del (TSPAN1) | XP_011538763.1:n.633+4635_633+4638del | |
| XM_011541759.1:c.1629_1632del (POMGNT1) | XP_011540061.1:p.Phe544CysfsTer? | |
| XM_011541760.1:c.1629_1632del (POMGNT1) | XP_011540062.1:p.Phe544CysfsTer? | |
| XM_011541761.1:c.603_606del (POMGNT1) | XP_011540063.1:p.Phe202CysfsTer? | |
| XM_011540460.3:c.678+4635_678+4638del (TSPAN1) | XP_011538762.1:n.678+4635_678+4638del | |
| XM_011541760.3:c.1629_1632del (POMGNT1) | XP_011540062.1:p.Phe544CysfsTer? | |
| XM_017001690.1:c.1695_1698del (POMGNT1) | XP_016857179.1:p.Phe566CysfsTer? | |
| NM_001243766.2:c.1695_1698del (POMGNT1) | NP_001230695.2:p.Phe566CysfsTer? | |
| NM_001290129.2:c.1629_1632del (POMGNT1) | NP_001277058.2:p.Phe544CysfsTer? | |
| NM_001290130.2:c.1266_1269del (POMGNT1) | NP_001277059.2:p.Phe423CysfsTer? | |
| NM_017739.4:c.1695_1698del (POMGNT1) MANE Select | NP_060209.4:p.Phe566CysfsTer? |