Linked Data
ClinVar Variation Id:
56596
ClinVar RCV Id:
RCV000050009
dbSNP Id:
rs386834026
PubMed:
PMID:12588800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46189328del , CM000663.2:g.46189328del | GRCh38 |
| NC_000001.10:g.46655000del , CM000663.1:g.46655000del | GRCh37 |
| NC_000001.9:g.46427587del | NCBI36 |
| NG_009205.2:g.35981del | |
| NG_009205.3:g.35981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1928del (POMGNT1) | ENSP00000379698.4:p.Phe643SerfsTer? | |
| ENST00000497439.6:n.2100del (POMGNT1) | ||
| ENST00000684817.1:n.2288del (POMGNT1) | ||
| ENST00000684898.1:n.2590del (POMGNT1) | ||
| ENST00000685230.1:c.*1238del (POMGNT1) | ENSP00000510305.1:n.*1238del | |
| ENST00000685275.1:n.2475del (POMGNT1) | ||
| ENST00000685444.1:c.1829del (POMGNT1) | ENSP00000510762.1:p.Phe610SerfsTer? | |
| ENST00000685704.1:n.2594del (POMGNT1) | ||
| ENST00000685833.1:n.4321del (POMGNT1) | ||
| ENST00000686252.1:n.3002del (POMGNT1) | ||
| ENST00000686379.1:c.*1052del (POMGNT1) | ENSP00000508913.1:n.*1052del | |
| ENST00000686724.1:n.3615del (POMGNT1) | ||
| ENST00000686737.1:c.1928del (POMGNT1) | ENSP00000508736.1:p.Phe643SerfsTer? | |
| ENST00000687112.1:n.2794del (POMGNT1) | ||
| ENST00000687149.1:c.1967del (POMGNT1) | ENSP00000509745.1:p.Phe656SerfsTer? | |
| ENST00000687197.1:c.*835+133del (POMGNT1) | ENSP00000510749.1:n.*835+133del | |
| ENST00000687235.1:n.4005del (POMGNT1) | ||
| ENST00000687613.1:n.2568del (POMGNT1) | ||
| ENST00000687683.1:c.1928del (POMGNT1) | ENSP00000508522.1:p.Phe643SerfsTer? | |
| ENST00000688032.1:n.2465del (POMGNT1) | ||
| ENST00000688596.1:n.2579del (POMGNT1) | ||
| ENST00000688608.1:c.1829del (POMGNT1) | ENSP00000508890.1:p.Phe610SerfsTer? | |
| ENST00000689031.1:n.2347+133del (POMGNT1) | ||
| ENST00000689756.1:c.*1560del (POMGNT1) | ENSP00000509023.1:n.*1560del | |
| ENST00000690377.1:n.2275del (POMGNT1) | ||
| ENST00000690678.1:c.1928del (POMGNT1) | ENSP00000508703.1:p.Phe643SerfsTer? | |
| ENST00000691185.1:n.399del (POMGNT1) | ||
| ENST00000691209.1:c.*868del (POMGNT1) | ENSP00000510112.1:n.*868del | |
| ENST00000691243.1:c.*319del (POMGNT1) | ENSP00000510654.1:n.*319del | |
| ENST00000692202.1:n.2503del (POMGNT1) | ||
| ENST00000692322.1:c.*1815del (POMGNT1) | ENSP00000509017.1:n.*1815del | |
| ENST00000692369.1:c.1895+133del (POMGNT1) | ENSP00000508453.1:n.1895+133del | |
| ENST00000692599.1:n.3803del (POMGNT1) | ||
| ENST00000692635.1:c.*803del (POMGNT1) | ENSP00000508425.1:n.*803del | |
| ENST00000693168.1:n.3704del (POMGNT1) | ||
| ENST00000693218.1:c.*489del (POMGNT1) | ENSP00000510577.1:n.*489del | |
| ENST00000693223.1:n.2876del (POMGNT1) | ||
| ENST00000371984.8:c.1928del (POMGNT1) MANE Select | ENSP00000361052.3:p.Phe643SerfsTer? | |
| ENST00000371984.7:c.1928del (POMGNT1) | ENSP00000361052.3:p.Phe643SerfsTer? | |
| ENST00000371992.1:c.1902del (POMGNT1) | ENSP00000361060.1:p.Pro635LeufsTer18 | |
| ENST00000396420.7:c.*1597del (POMGNT1) | ENSP00000379698.3:n.*1597del | |
| ENST00000475642.1:n.110+133del (POMGNT1) | ||
| NM_001243766.1:c.1902del (POMGNT1) | NP_001230695.1:p.Pro635LeufsTer18 | |
| NM_001290129.1:c.1862del (POMGNT1) | NP_001277058.1:p.Phe621SerfsTer? | |
| NM_001290130.1:c.1499del (POMGNT1) | NP_001277059.1:p.Phe500SerfsTer? | |
| NM_017739.3:c.1928del (POMGNT1) | NP_060209.3:p.Phe643SerfsTer? | |
| XM_005271010.1:c.1895+133del (POMGNT1) | XP_005271067.1:n.1895+133del | |
| XM_006710755.1:c.1895+133del (POMGNT1) | XP_006710818.1:n.1895+133del | |
| XM_006710756.1:c.1902del (POMGNT1) | XP_006710819.1:p.Pro635LeufsTer18 | |
| XM_011540460.1:c.678+4020del (TSPAN1) | XP_011538762.1:n.678+4020del | |
| XM_011540461.1:c.633+4020del (TSPAN1) | XP_011538763.1:n.633+4020del | |
| XM_011541759.1:c.1829+133del (POMGNT1) | XP_011540061.1:n.1829+133del | |
| XM_011541760.1:c.1862del (POMGNT1) | XP_011540062.1:p.Phe621SerfsTer? | |
| XM_011541761.1:c.803+133del (POMGNT1) | XP_011540063.1:n.803+133del | |
| XM_011540460.3:c.678+4020del (TSPAN1) | XP_011538762.1:n.678+4020del | |
| XM_011541760.3:c.1862del (POMGNT1) | XP_011540062.1:p.Phe621SerfsTer? | |
| XM_017001690.1:c.1928del (POMGNT1) | XP_016857179.1:p.Phe643SerfsTer? | |
| NM_001243766.2:c.1902del (POMGNT1) | NP_001230695.2:p.Pro635LeufsTer18 | |
| NM_001290129.2:c.1862del (POMGNT1) | NP_001277058.2:p.Phe621SerfsTer? | |
| NM_001290130.2:c.1499del (POMGNT1) | NP_001277059.2:p.Phe500SerfsTer? | |
| NM_017739.4:c.1928del (POMGNT1) MANE Select | NP_060209.4:p.Phe643SerfsTer? |