Linked Data
ClinVar Variation Id:
370499
dbSNP Id:
rs1057516536
gnomAD v2:
1-46659060-CCT-C
gnomAD v4:
1-46193388-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46193389_46193390del , CM000663.2:g.46193389_46193390del | GRCh38 |
| NC_000001.10:g.46659061_46659062del , CM000663.1:g.46659061_46659062del | GRCh37 |
| NC_000001.9:g.46431648_46431649del | NCBI36 |
| NG_009205.2:g.31916_31917del | |
| NG_009205.3:g.31916_31917del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396420.8:c.1027-2_1027-1del (POMGNT1) | ENSP00000379698.4:n.1027-2_1027-1del | |
| ENST00000477114.2:n.1587_1588del (POMGNT1) | ||
| ENST00000497439.6:n.1199-2_1199-1del (POMGNT1) | ||
| ENST00000684817.1:n.1387-2_1387-1del (POMGNT1) | ||
| ENST00000684898.1:n.1587_1588del (POMGNT1) | ||
| ENST00000685230.1:c.*335_*336del (POMGNT1) | ENSP00000510305.1:n.*335_*336del | |
| ENST00000685275.1:n.1572_1573del (POMGNT1) | ||
| ENST00000685444.1:c.928-2_928-1del (POMGNT1) | ENSP00000510762.1:n.928-2_928-1del | |
| ENST00000685704.1:n.1587_1588del (POMGNT1) | ||
| ENST00000685775.1:n.2552_2553del (POMGNT1) | ||
| ENST00000685833.1:n.1903_1904del (POMGNT1) | ||
| ENST00000686252.1:n.2101-2_2101-1del (POMGNT1) | ||
| ENST00000686379.1:c.*151-2_*151-1del (POMGNT1) | ENSP00000508913.1:n.*151-2_*151-1del | |
| ENST00000686724.1:n.1199-2_1199-1del (POMGNT1) | ||
| ENST00000686737.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000508736.1:n.1027-2_1027-1del | |
| ENST00000687112.1:n.1587_1588del (POMGNT1) | ||
| ENST00000687149.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000509745.1:n.1027-2_1027-1del | |
| ENST00000687197.1:c.951-2_951-1del (POMGNT1) | ENSP00000510749.1:n.951-2_951-1del | |
| ENST00000687235.1:n.1587_1588del (POMGNT1) | ||
| ENST00000687613.1:n.1775_1776del (POMGNT1) | ||
| ENST00000687683.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000508522.1:n.1027-2_1027-1del | |
| ENST00000688032.1:n.1587_1588del (POMGNT1) | ||
| ENST00000688596.1:n.1372_1373del (POMGNT1) | ||
| ENST00000688608.1:c.928-2_928-1del (POMGNT1) | ENSP00000508890.1:n.928-2_928-1del | |
| ENST00000688919.1:n.2221_2222del (POMGNT1) | ||
| ENST00000689031.1:n.1587_1588del (POMGNT1) | ||
| ENST00000689717.1:n.1199-2_1199-1del (POMGNT1) | ||
| ENST00000689756.1:c.*659-2_*659-1del (POMGNT1) | ENSP00000509023.1:n.*659-2_*659-1del | |
| ENST00000690377.1:n.1372_1373del (POMGNT1) | ||
| ENST00000690678.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000508703.1:n.1027-2_1027-1del | |
| ENST00000691209.1:c.951-2_951-1del (POMGNT1) | ENSP00000510112.1:n.951-2_951-1del | |
| ENST00000691243.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000510654.1:n.1027-2_1027-1del | |
| ENST00000692169.1:n.1176-2_1176-1del (POMGNT1) | ||
| ENST00000692202.1:n.1602-2_1602-1del (POMGNT1) | ||
| ENST00000692322.1:c.*879-2_*879-1del (POMGNT1) | ENSP00000509017.1:n.*879-2_*879-1del | |
| ENST00000692369.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000508453.1:n.1027-2_1027-1del | |
| ENST00000692599.1:n.1587_1588del (POMGNT1) | ||
| ENST00000692635.1:c.951-2_951-1del (POMGNT1) | ENSP00000508425.1:n.951-2_951-1del | |
| ENST00000693168.1:n.1199-2_1199-1del (POMGNT1) | ||
| ENST00000693218.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000510577.1:n.1027-2_1027-1del | |
| ENST00000693223.1:n.1671-2_1671-1del (POMGNT1) | ||
| ENST00000693365.1:n.3355_3356del (POMGNT1) | ||
| ENST00000371984.8:c.1027-2_1027-1del (POMGNT1) MANE Select | ENSP00000361052.3:n.1027-2_1027-1del | |
| ENST00000371984.7:c.1027-2_1027-1del (POMGNT1) | ENSP00000361052.3:n.1027-2_1027-1del | |
| ENST00000371992.1:c.1027-2_1027-1del (POMGNT1) | ENSP00000361060.1:n.1027-2_1027-1del | |
| ENST00000396420.7:c.*694_*695del (POMGNT1) | ENSP00000379698.3:n.*694_*695del | |
| ENST00000477114.1:n.763_764del (POMGNT1) | ||
| ENST00000485714.1:n.411_412del (POMGNT1) | ||
| NM_001243766.1:c.1027-2_1027-1del (POMGNT1) | NP_001230695.1:n.1027-2_1027-1del | |
| NM_001290129.1:c.961-2_961-1del (POMGNT1) | NP_001277058.1:n.961-2_961-1del | |
| NM_001290130.1:c.598-2_598-1del (POMGNT1) | NP_001277059.1:n.598-2_598-1del | |
| NM_017739.3:c.1027-2_1027-1del (POMGNT1) | NP_060209.3:n.1027-2_1027-1del | |
| XM_005271010.1:c.1027-2_1027-1del (POMGNT1) | XP_005271067.1:n.1027-2_1027-1del | |
| XM_006710755.1:c.1027-2_1027-1del (POMGNT1) | XP_006710818.1:n.1027-2_1027-1del | |
| XM_006710756.1:c.1027-2_1027-1del (POMGNT1) | XP_006710819.1:n.1027-2_1027-1del | |
| XM_011540460.1:c.679-2813_679-2812del (TSPAN1) | XP_011538762.1:n.679-2813_679-2812del | |
| XM_011540461.1:c.634-2813_634-2812del (TSPAN1) | XP_011538763.1:n.634-2813_634-2812del | |
| XM_011541759.1:c.961-2_961-1del (POMGNT1) | XP_011540061.1:n.961-2_961-1del | |
| XM_011541760.1:c.961-2_961-1del (POMGNT1) | XP_011540062.1:n.961-2_961-1del | |
| XM_011541761.1:c.-67-2_-67-1del (POMGNT1) | XP_011540063.1:n.-67-2_-67-1del | |
| XR_946706.1:n.1186-2_1186-1del (POMGNT1) | ||
| XM_011540460.3:c.679-2813_679-2812del (TSPAN1) | XP_011538762.1:n.679-2813_679-2812del | |
| XM_011541760.3:c.961-2_961-1del (POMGNT1) | XP_011540062.1:n.961-2_961-1del | |
| XM_017001690.1:c.1027-2_1027-1del (POMGNT1) | XP_016857179.1:n.1027-2_1027-1del | |
| NM_001243766.2:c.1027-2_1027-1del (POMGNT1) | NP_001230695.2:n.1027-2_1027-1del | |
| NM_001290129.2:c.961-2_961-1del (POMGNT1) | NP_001277058.2:n.961-2_961-1del | |
| NM_001290130.2:c.598-2_598-1del (POMGNT1) | NP_001277059.2:n.598-2_598-1del | |
| NM_017739.4:c.1027-2_1027-1del (POMGNT1) MANE Select | NP_060209.4:n.1027-2_1027-1del |