Linked Data
ClinVar Variation Id:
370335
dbSNP Id:
rs1057516409
gnomAD v2:
1-46658170-CCCTGGTCATTCCAGCCTA-C
gnomAD v3:
1-46192498-CCCTGGTCATTCCAGCCTA-C
gnomAD v4:
1-46192498-CCCTGGTCATTCCAGCCTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192513_46192530del , CM000663.2:g.46192513_46192530del | GRCh38 |
| NC_000001.10:g.46658185_46658202del , CM000663.1:g.46658185_46658202del | GRCh37 |
| NC_000001.9:g.46430772_46430789del | NCBI36 |
| NG_009205.2:g.32790_32807del | |
| NG_009205.3:g.32790_32807del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000477114.2:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000497439.6:n.1456+2_1456+19del (POMGNT1) | ||
| ENST00000684817.1:n.1644+2_1644+19del (POMGNT1) | ||
| ENST00000684898.1:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000685230.1:c.*594+2_*594+19del (POMGNT1) | ||
| ENST00000685275.1:n.1831+2_1831+19del (POMGNT1) | ||
| ENST00000685444.1:c.1185+2_1185+19del (POMGNT1) | ||
| ENST00000685704.1:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000685775.1:n.2811+2_2811+19del (POMGNT1) | ||
| ENST00000685833.1:n.2162+2_2162+19del (POMGNT1) | ||
| ENST00000686252.1:n.2358+2_2358+19del (POMGNT1) | ||
| ENST00000686379.1:c.*408+2_*408+19del (POMGNT1) | ||
| ENST00000686724.1:n.1456+2_1456+19del (POMGNT1) | ||
| ENST00000686737.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000687112.1:n.2150+2_2150+19del (POMGNT1) | ||
| ENST00000687149.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000687197.1:c.*224+2_*224+19del (POMGNT1) | ||
| ENST00000687235.1:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000687613.1:n.2034+2_2034+19del (POMGNT1) | ||
| ENST00000687683.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000688032.1:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000688596.1:n.1935+2_1935+19del (POMGNT1) | ||
| ENST00000688608.1:c.1185+2_1185+19del (POMGNT1) | ||
| ENST00000688919.1:n.2480+2_2480+19del (POMGNT1) | ||
| ENST00000689031.1:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000689717.1:n.1456+2_1456+19del (POMGNT1) | ||
| ENST00000689756.1:c.*916+2_*916+19del (POMGNT1) | ||
| ENST00000690377.1:n.1631+2_1631+19del (POMGNT1) | ||
| ENST00000690678.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000691209.1:c.*224+2_*224+19del (POMGNT1) | ||
| ENST00000691243.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000692169.1:n.1433+2_1433+19del (POMGNT1) | ||
| ENST00000692202.1:n.1859+2_1859+19del (POMGNT1) | ||
| ENST00000692322.1:c.*1136+2_*1136+19del (POMGNT1) | ||
| ENST00000692369.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000692599.1:n.1846+2_1846+19del (POMGNT1) | ||
| ENST00000692635.1:c.*224+2_*224+19del (POMGNT1) | ||
| ENST00000693168.1:n.1545+2_1545+19del (POMGNT1) | ||
| ENST00000693218.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000693223.1:n.2232+2_2232+19del (POMGNT1) | ||
| ENST00000693365.1:n.3918+2_3918+19del (POMGNT1) | ||
| ENST00000371984.8:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000371984.7:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000371992.1:c.1284+2_1284+19del (POMGNT1) | ||
| ENST00000396420.7:c.*953+2_*953+19del (POMGNT1) | ||
| ENST00000485714.1:n.670+2_670+19del (POMGNT1) | ||
| NM_001243766.1:c.1284+2_1284+19del (POMGNT1) | ||
| NM_001290129.1:c.1218+2_1218+19del (POMGNT1) | ||
| NM_001290130.1:c.855+2_855+19del (POMGNT1) | ||
| NM_017739.3:c.1284+2_1284+19del (POMGNT1) | ||
| XM_005271010.1:c.1284+2_1284+19del (POMGNT1) | ||
| XM_006710755.1:c.1284+2_1284+19del (POMGNT1) | ||
| XM_006710756.1:c.1284+2_1284+19del (POMGNT1) | ||
| XM_011540460.1:c.679-3689_679-3672del (TSPAN1) | XP_011538762.1:n.679-3689_679-3672del | |
| XM_011540461.1:c.634-3689_634-3672del (TSPAN1) | XP_011538763.1:n.634-3689_634-3672del | |
| XM_011541759.1:c.1218+2_1218+19del (POMGNT1) | ||
| XM_011541760.1:c.1218+2_1218+19del (POMGNT1) | ||
| XM_011541761.1:c.192+2_192+19del (POMGNT1) | ||
| XR_946706.1:n.1444+2_1444+19del (POMGNT1) | ||
| XM_011540460.3:c.679-3689_679-3672del (TSPAN1) | XP_011538762.1:n.679-3689_679-3672del | |
| XM_011541760.3:c.1218+2_1218+19del (POMGNT1) | ||
| XM_017001690.1:c.1284+2_1284+19del (POMGNT1) | ||
| NM_001243766.2:c.1284+2_1284+19del (POMGNT1) | ||
| NM_001290129.2:c.1218+2_1218+19del (POMGNT1) | ||
| NM_001290130.2:c.855+2_855+19del (POMGNT1) | ||
| NM_017739.4:c.1284+2_1284+19del (POMGNT1) |