Linked Data
dbSNP Id:
rs772343077
gnomAD v2:
1-46657939-G-GGTAGGGGACTC
gnomAD v3:
1-46192267-G-GGTAGGGGACTC
gnomAD v4:
1-46192267-G-GGTAGGGGACTC
MyVariant Identifiers:
chr1:g.46657939_46657940insGTAGGGGACTC (hg19)
chr1:g.46192267_46192268insGTAGGGGACTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46192268_46192278dup , CM000663.2:g.46192268_46192278dup | GRCh38 |
| NC_000001.10:g.46657940_46657950dup , CM000663.1:g.46657940_46657950dup | GRCh37 |
| NC_000001.9:g.46430527_46430537dup | NCBI36 |
| NG_009205.2:g.33028_33038dup | |
| NG_009205.3:g.33028_33038dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1413+30_1413+40dup (POMGNT1) | ENSP00000379698.4:n.1413+30_1413+40dup | |
| ENST00000477114.2:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000497439.6:n.1585+30_1585+40dup (POMGNT1) | ||
| ENST00000684817.1:n.1773+30_1773+40dup (POMGNT1) | ||
| ENST00000684898.1:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000685230.1:c.*723+30_*723+40dup (POMGNT1) | ENSP00000510305.1:n.*723+30_*723+40dup | |
| ENST00000685275.1:n.1960+30_1960+40dup (POMGNT1) | ||
| ENST00000685444.1:c.1314+30_1314+40dup (POMGNT1) | ENSP00000510762.1:n.1314+30_1314+40dup | |
| ENST00000685704.1:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000685775.1:n.2940+30_2940+40dup (POMGNT1) | ||
| ENST00000685833.1:n.2291+30_2291+40dup (POMGNT1) | ||
| ENST00000686252.1:n.2487+30_2487+40dup (POMGNT1) | ||
| ENST00000686379.1:c.*537+30_*537+40dup (POMGNT1) | ENSP00000508913.1:n.*537+30_*537+40dup | |
| ENST00000686724.1:n.1585+30_1585+40dup (POMGNT1) | ||
| ENST00000686737.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000508736.1:n.1413+30_1413+40dup | |
| ENST00000687112.1:n.2279+30_2279+40dup (POMGNT1) | ||
| ENST00000687149.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000509745.1:n.1413+30_1413+40dup | |
| ENST00000687197.1:c.*353+30_*353+40dup (POMGNT1) | ENSP00000510749.1:n.*353+30_*353+40dup | |
| ENST00000687235.1:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000687613.1:n.2163+30_2163+40dup (POMGNT1) | ||
| ENST00000687683.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000508522.1:n.1413+30_1413+40dup | |
| ENST00000688032.1:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000688596.1:n.2064+30_2064+40dup (POMGNT1) | ||
| ENST00000688608.1:c.1314+30_1314+40dup (POMGNT1) | ENSP00000508890.1:n.1314+30_1314+40dup | |
| ENST00000688919.1:n.2609+30_2609+40dup (POMGNT1) | ||
| ENST00000689031.1:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000689717.1:n.1585+30_1585+40dup (POMGNT1) | ||
| ENST00000689756.1:c.*1045+30_*1045+40dup (POMGNT1) | ENSP00000509023.1:n.*1045+30_*1045+40dup | |
| ENST00000690377.1:n.1760+30_1760+40dup (POMGNT1) | ||
| ENST00000690678.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000508703.1:n.1413+30_1413+40dup | |
| ENST00000691209.1:c.*353+30_*353+40dup (POMGNT1) | ENSP00000510112.1:n.*353+30_*353+40dup | |
| ENST00000691243.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000510654.1:n.1413+30_1413+40dup | |
| ENST00000692169.1:n.1562+30_1562+40dup (POMGNT1) | ||
| ENST00000692202.1:n.1988+30_1988+40dup (POMGNT1) | ||
| ENST00000692322.1:c.*1265+30_*1265+40dup (POMGNT1) | ENSP00000509017.1:n.*1265+30_*1265+40dup | |
| ENST00000692369.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000508453.1:n.1413+30_1413+40dup | |
| ENST00000692599.1:n.1975+30_1975+40dup (POMGNT1) | ||
| ENST00000692635.1:c.*353+30_*353+40dup (POMGNT1) | ENSP00000508425.1:n.*353+30_*353+40dup | |
| ENST00000693168.1:n.1674+30_1674+40dup (POMGNT1) | ||
| ENST00000693218.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000510577.1:n.1413+30_1413+40dup | |
| ENST00000693223.1:n.2361+30_2361+40dup (POMGNT1) | ||
| ENST00000693365.1:n.4047+30_4047+40dup (POMGNT1) | ||
| ENST00000371984.8:c.1413+30_1413+40dup (POMGNT1) MANE Select | ENSP00000361052.3:n.1413+30_1413+40dup | |
| ENST00000371984.7:c.1413+30_1413+40dup (POMGNT1) | ENSP00000361052.3:n.1413+30_1413+40dup | |
| ENST00000371992.1:c.1413+30_1413+40dup (POMGNT1) | ENSP00000361060.1:n.1413+30_1413+40dup | |
| ENST00000396420.7:c.*1082+30_*1082+40dup (POMGNT1) | ENSP00000379698.3:n.*1082+30_*1082+40dup | |
| ENST00000463030.1:n.34+30_34+40dup (POMGNT1) | ||
| ENST00000485714.1:n.799+30_799+40dup (POMGNT1) | ||
| NM_001243766.1:c.1413+30_1413+40dup (POMGNT1) | NP_001230695.1:n.1413+30_1413+40dup | |
| NM_001290129.1:c.1347+30_1347+40dup (POMGNT1) | NP_001277058.1:n.1347+30_1347+40dup | |
| NM_001290130.1:c.984+30_984+40dup (POMGNT1) | NP_001277059.1:n.984+30_984+40dup | |
| NM_017739.3:c.1413+30_1413+40dup (POMGNT1) | NP_060209.3:n.1413+30_1413+40dup | |
| XM_005271010.1:c.1413+30_1413+40dup (POMGNT1) | XP_005271067.1:n.1413+30_1413+40dup | |
| XM_006710755.1:c.1413+30_1413+40dup (POMGNT1) | XP_006710818.1:n.1413+30_1413+40dup | |
| XM_006710756.1:c.1413+30_1413+40dup (POMGNT1) | XP_006710819.1:n.1413+30_1413+40dup | |
| XM_011540460.1:c.679-3934_679-3924dup (TSPAN1) | XP_011538762.1:n.679-3934_679-3924dup | |
| XM_011540461.1:c.634-3934_634-3924dup (TSPAN1) | XP_011538763.1:n.634-3934_634-3924dup | |
| XM_011541759.1:c.1347+30_1347+40dup (POMGNT1) | XP_011540061.1:n.1347+30_1347+40dup | |
| XM_011541760.1:c.1347+30_1347+40dup (POMGNT1) | XP_011540062.1:n.1347+30_1347+40dup | |
| XM_011541761.1:c.321+30_321+40dup (POMGNT1) | XP_011540063.1:n.321+30_321+40dup | |
| XR_946706.1:n.1573+30_1573+40dup (POMGNT1) | ||
| XM_011540460.3:c.679-3934_679-3924dup (TSPAN1) | XP_011538762.1:n.679-3934_679-3924dup | |
| XM_011541760.3:c.1347+30_1347+40dup (POMGNT1) | XP_011540062.1:n.1347+30_1347+40dup | |
| XM_017001690.1:c.1413+30_1413+40dup (POMGNT1) | XP_016857179.1:n.1413+30_1413+40dup | |
| NM_001243766.2:c.1413+30_1413+40dup (POMGNT1) | NP_001230695.2:n.1413+30_1413+40dup | |
| NM_001290129.2:c.1347+30_1347+40dup (POMGNT1) | NP_001277058.2:n.1347+30_1347+40dup | |
| NM_001290130.2:c.984+30_984+40dup (POMGNT1) | NP_001277059.2:n.984+30_984+40dup | |
| NM_017739.4:c.1413+30_1413+40dup (POMGNT1) MANE Select | NP_060209.4:n.1413+30_1413+40dup |