Linked Data
dbSNP Id:
rs794727395
ExAC:
1:237044125 AGT / A
gnomAD v2:
1-237044125-AGT-A
gnomAD v4:
1-236880825-AGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236880829_236880830del , CM000663.2:g.236880829_236880830del | GRCh38 |
| NC_000001.10:g.237044129_237044130del , CM000663.1:g.237044129_237044130del | GRCh37 |
| NC_000001.9:g.235110752_235110753del | NCBI36 |
| NG_008959.1:g.90549_90550del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.2669_2670del MANE Select | ENSP00000355536.5:p.Val890GlyfsTer9 | |
| ENST00000535889.6:c.2516_2517del | ENSP00000441845.1:p.Val839GlyfsTer9 | |
| ENST00000650888.1:c.*1711_*1712del | ENSP00000498393.1:n.*1711_*1712del | |
| ENST00000651455.1:c.*1413_*1414del | ENSP00000498963.1:n.*1413_*1414del | |
| ENST00000674797.2:c.2321_2322del | ENSP00000502299.2:p.Val774GlyfsTer9 | |
| ENST00000679569.1:n.2983_2984del | ||
| ENST00000679842.1:c.2480_2481del | ENSP00000506109.1:p.Val827GlyfsTer9 | |
| ENST00000680454.1:n.3113_3114del | ||
| ENST00000681102.1:c.2489_2490del | ENSP00000505600.1:p.Val830GlyfsTer9 | |
| ENST00000681177.1:c.2231_2232del | ENSP00000506327.1:p.Val744GlyfsTer9 | |
| ENST00000681937.1:n.2863_2864del | ||
| ENST00000366576.3:c.1331_1332del | ENSP00000355535.3:p.Val444GlyfsTer9 | |
| ENST00000366577.9:c.2669_2670del | ENSP00000355536.5:p.Val890GlyfsTer9 | |
| ENST00000535889.5:c.2516_2517del | ENSP00000441845.1:p.Val839GlyfsTer9 | |
| NM_000254.2:c.2669_2670del | NP_000245.2:p.Val890GlyfsTer9 | |
| NM_001291939.1:c.2516_2517del | NP_001278868.1:p.Val839GlyfsTer9 | |
| NM_001291940.1:c.1448_1449del | NP_001278869.1:p.Val483GlyfsTer9 | |
| XM_005273141.3:c.2666_2667del | XP_005273198.1:p.Val889GlyfsTer9 | |
| XM_006711769.2:c.2669_2670del | XP_006711832.1:p.Val890GlyfsTer9 | |
| XM_006711770.1:c.1733_1734del | XP_006711833.1:p.Val578GlyfsTer9 | |
| XM_011544193.1:c.2480_2481del | XP_011542495.1:p.Val827GlyfsTer9 | |
| XM_011544194.1:c.2837_2838del | XP_011542496.1:p.Val946GlyfsTer9 | |
| XM_005273141.5:c.2666_2667del | XP_005273198.1:p.Val889GlyfsTer9 | |
| XM_006711770.3:c.1733_1734del | XP_006711833.1:p.Val578GlyfsTer9 | |
| XM_011544194.3:c.2837_2838del | XP_011542496.1:p.Val946GlyfsTer9 | |
| XM_017001329.2:c.2684_2685del | XP_016856818.1:p.Val895GlyfsTer9 | |
| XM_017001330.2:c.2648_2649del | XP_016856819.1:p.Val883GlyfsTer9 | |
| NM_001291940.2:c.1448_1449del | NP_001278869.1:p.Val483GlyfsTer9 | |
| NM_000254.3:c.2669_2670del MANE Select | NP_000245.2:p.Val890GlyfsTer9 |