Linked Data
ClinVar Variation Id:
424898
dbSNP Id:
rs1064797111
gnomAD v2:
1-46658263-CTG-C
gnomAD v4:
1-46192591-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192592_46192593del , CM000663.2:g.46192592_46192593del | GRCh38 |
| NC_000001.10:g.46658264_46658265del , CM000663.1:g.46658264_46658265del | GRCh37 |
| NC_000001.9:g.46430851_46430852del | NCBI36 |
| NG_009205.2:g.32713_32714del | |
| NG_009205.3:g.32713_32714del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396420.8:c.1212-3_1212-2del (POMGNT1) | ENSP00000379698.4:n.1212-3_1212-2del | |
| ENST00000477114.2:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000497439.6:n.1384-3_1384-2del (POMGNT1) | ||
| ENST00000684817.1:n.1572-3_1572-2del (POMGNT1) | ||
| ENST00000684898.1:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000685230.1:c.*522-3_*522-2del (POMGNT1) | ENSP00000510305.1:n.*522-3_*522-2del | |
| ENST00000685275.1:n.1759-3_1759-2del (POMGNT1) | ||
| ENST00000685444.1:c.1113-3_1113-2del (POMGNT1) | ENSP00000510762.1:n.1113-3_1113-2del | |
| ENST00000685704.1:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000685775.1:n.2739-3_2739-2del (POMGNT1) | ||
| ENST00000685833.1:n.2090-3_2090-2del (POMGNT1) | ||
| ENST00000686252.1:n.2286-3_2286-2del (POMGNT1) | ||
| ENST00000686379.1:c.*336-3_*336-2del (POMGNT1) | ENSP00000508913.1:n.*336-3_*336-2del | |
| ENST00000686724.1:n.1384-3_1384-2del (POMGNT1) | ||
| ENST00000686737.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000508736.1:n.1212-3_1212-2del | |
| ENST00000687112.1:n.2078-3_2078-2del (POMGNT1) | ||
| ENST00000687149.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000509745.1:n.1212-3_1212-2del | |
| ENST00000687197.1:c.*152-3_*152-2del (POMGNT1) | ENSP00000510749.1:n.*152-3_*152-2del | |
| ENST00000687235.1:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000687613.1:n.1962-3_1962-2del (POMGNT1) | ||
| ENST00000687683.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000508522.1:n.1212-3_1212-2del | |
| ENST00000688032.1:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000688596.1:n.1863-3_1863-2del (POMGNT1) | ||
| ENST00000688608.1:c.1113-3_1113-2del (POMGNT1) | ENSP00000508890.1:n.1113-3_1113-2del | |
| ENST00000688919.1:n.2408-3_2408-2del (POMGNT1) | ||
| ENST00000689031.1:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000689717.1:n.1384-3_1384-2del (POMGNT1) | ||
| ENST00000689756.1:c.*844-3_*844-2del (POMGNT1) | ENSP00000509023.1:n.*844-3_*844-2del | |
| ENST00000690377.1:n.1559-3_1559-2del (POMGNT1) | ||
| ENST00000690678.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000508703.1:n.1212-3_1212-2del | |
| ENST00000691209.1:c.*152-3_*152-2del (POMGNT1) | ENSP00000510112.1:n.*152-3_*152-2del | |
| ENST00000691243.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000510654.1:n.1212-3_1212-2del | |
| ENST00000692169.1:n.1361-3_1361-2del (POMGNT1) | ||
| ENST00000692202.1:n.1787-3_1787-2del (POMGNT1) | ||
| ENST00000692322.1:c.*1064-3_*1064-2del (POMGNT1) | ENSP00000509017.1:n.*1064-3_*1064-2del | |
| ENST00000692369.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000508453.1:n.1212-3_1212-2del | |
| ENST00000692599.1:n.1774-3_1774-2del (POMGNT1) | ||
| ENST00000692635.1:c.*152-3_*152-2del (POMGNT1) | ENSP00000508425.1:n.*152-3_*152-2del | |
| ENST00000693168.1:n.1473-3_1473-2del (POMGNT1) | ||
| ENST00000693218.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000510577.1:n.1212-3_1212-2del | |
| ENST00000693223.1:n.2160-3_2160-2del (POMGNT1) | ||
| ENST00000693365.1:n.3846-3_3846-2del (POMGNT1) | ||
| ENST00000371984.8:c.1212-3_1212-2del (POMGNT1) MANE Select | ENSP00000361052.3:n.1212-3_1212-2del | |
| ENST00000371984.7:c.1212-3_1212-2del (POMGNT1) | ENSP00000361052.3:n.1212-3_1212-2del | |
| ENST00000371992.1:c.1212-3_1212-2del (POMGNT1) | ENSP00000361060.1:n.1212-3_1212-2del | |
| ENST00000396420.7:c.*881-3_*881-2del (POMGNT1) | ENSP00000379698.3:n.*881-3_*881-2del | |
| ENST00000485714.1:n.598-3_598-2del (POMGNT1) | ||
| NM_001243766.1:c.1212-3_1212-2del (POMGNT1) | NP_001230695.1:n.1212-3_1212-2del | |
| NM_001290129.1:c.1146-3_1146-2del (POMGNT1) | NP_001277058.1:n.1146-3_1146-2del | |
| NM_001290130.1:c.783-3_783-2del (POMGNT1) | NP_001277059.1:n.783-3_783-2del | |
| NM_017739.3:c.1212-3_1212-2del (POMGNT1) | NP_060209.3:n.1212-3_1212-2del | |
| XM_005271010.1:c.1212-3_1212-2del (POMGNT1) | XP_005271067.1:n.1212-3_1212-2del | |
| XM_006710755.1:c.1212-3_1212-2del (POMGNT1) | XP_006710818.1:n.1212-3_1212-2del | |
| XM_006710756.1:c.1212-3_1212-2del (POMGNT1) | XP_006710819.1:n.1212-3_1212-2del | |
| XM_011540460.1:c.679-3610_679-3609del (TSPAN1) | XP_011538762.1:n.679-3610_679-3609del | |
| XM_011540461.1:c.634-3610_634-3609del (TSPAN1) | XP_011538763.1:n.634-3610_634-3609del | |
| XM_011541759.1:c.1146-3_1146-2del (POMGNT1) | XP_011540061.1:n.1146-3_1146-2del | |
| XM_011541760.1:c.1146-3_1146-2del (POMGNT1) | XP_011540062.1:n.1146-3_1146-2del | |
| XM_011541761.1:c.117_118del (POMGNT1) | XP_011540063.1:p.Phe39LeufsTer14 | |
| XR_946706.1:n.1369_1370del (POMGNT1) | ||
| XM_011540460.3:c.679-3610_679-3609del (TSPAN1) | XP_011538762.1:n.679-3610_679-3609del | |
| XM_011541760.3:c.1146-3_1146-2del (POMGNT1) | XP_011540062.1:n.1146-3_1146-2del | |
| XM_017001690.1:c.1212-3_1212-2del (POMGNT1) | XP_016857179.1:n.1212-3_1212-2del | |
| NM_001243766.2:c.1212-3_1212-2del (POMGNT1) | NP_001230695.2:n.1212-3_1212-2del | |
| NM_001290129.2:c.1146-3_1146-2del (POMGNT1) | NP_001277058.2:n.1146-3_1146-2del | |
| NM_001290130.2:c.783-3_783-2del (POMGNT1) | NP_001277059.2:n.783-3_783-2del | |
| NM_017739.4:c.1212-3_1212-2del (POMGNT1) MANE Select | NP_060209.4:n.1212-3_1212-2del |