Linked Data
ClinVar Variation Id:
203548
dbSNP Id:
rs777998984
ExAC:
1:76200513 AG / A
gnomAD v2:
1-76200513-AG-A
gnomAD v3:
1-75734828-AG-A
gnomAD v4:
1-75734828-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75734829del , CM000663.2:g.75734829del | GRCh38 |
| NC_000001.10:g.76200514del , CM000663.1:g.76200514del | GRCh37 |
| NC_000001.9:g.75973102del | NCBI36 |
| NG_007045.2:g.15472del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.426del MANE Select | ENSP00000359878.5:p.Lys143ArgfsTer7 | |
| ENST00000473018.3:n.2550del | ||
| ENST00000525881.6:n.1388del | ||
| ENST00000541113.6:c.426del | ENSP00000442324.2:p.Lys143ArgfsTer7 | |
| ENST00000679509.1:n.1388del | ||
| ENST00000679530.1:c.*194del | ENSP00000506454.1:n.*194del | |
| ENST00000679615.1:n.2550del | ||
| ENST00000679687.1:c.31-5151del | ENSP00000506598.1:n.31-5151del | |
| ENST00000679704.1:c.*192del | ENSP00000505117.1:n.*192del | |
| ENST00000679709.1:c.*389del | ENSP00000506623.1:n.*389del | |
| ENST00000679804.1:n.207+1907del | ||
| ENST00000679976.1:c.*10del | ENSP00000505565.1:n.*10del | |
| ENST00000680166.1:n.3715del | ||
| ENST00000680517.1:c.286+1907del | ENSP00000505803.1:n.286+1907del | |
| ENST00000680582.1:n.1388del | ||
| ENST00000680613.1:c.426del | ENSP00000506114.1:p.Lys143ArgfsTer7 | |
| ENST00000680662.1:c.*340del | ENSP00000505080.1:n.*340del | |
| ENST00000680691.1:c.*89del | ENSP00000506487.1:n.*89del | |
| ENST00000680694.1:c.*10del | ENSP00000505658.1:n.*10del | |
| ENST00000680743.1:c.*93del | ENSP00000505073.1:n.*93del | |
| ENST00000680749.1:c.426del | ENSP00000505122.1:p.Lys143ArgfsTer7 | |
| ENST00000680798.1:c.*10del | ENSP00000505670.1:n.*10del | |
| ENST00000680805.1:c.426del | ENSP00000505447.1:p.Lys143ArgfsTer7 | |
| ENST00000680844.1:c.*210del | ENSP00000506541.1:n.*210del | |
| ENST00000680948.1:c.*293del | ENSP00000505441.1:n.*293del | |
| ENST00000680964.1:c.426del | ENSP00000505961.1:p.Lys143ArgfsTer7 | |
| ENST00000681037.1:c.426del | ENSP00000506025.1:p.Lys143ArgfsTer7 | |
| ENST00000681063.1:c.426del | ENSP00000506616.1:p.Lys143ArgfsTer7 | |
| ENST00000681209.1:c.*190del | ENSP00000505877.1:n.*190del | |
| ENST00000681278.1:n.783del | ||
| ENST00000681289.1:n.783del | ||
| ENST00000681361.1:c.*93del | ENSP00000506679.1:n.*93del | |
| ENST00000681430.1:c.426del | ENSP00000506301.1:p.Lys143ArgfsTer7 | |
| ENST00000681446.1:c.*10del | ENSP00000506244.1:n.*10del | |
| ENST00000681450.1:c.*93del | ENSP00000505660.1:n.*93del | |
| ENST00000681548.1:c.*54+1907del | ENSP00000505275.1:n.*54+1907del | |
| ENST00000681616.1:c.*194del | ENSP00000505111.1:n.*194del | |
| ENST00000681621.1:c.*10del | ENSP00000505770.1:n.*10del | |
| ENST00000681680.1:n.2550del | ||
| ENST00000681720.1:c.*54+1907del | ENSP00000505438.1:n.*54+1907del | |
| ENST00000681730.1:n.648del | ||
| ENST00000681790.1:c.168del | ENSP00000505130.1:p.Lys57ArgfsTer7 | |
| ENST00000681837.1:n.1042del | ||
| ENST00000681913.1:n.2550del | ||
| ENST00000681916.1:c.*194del | ENSP00000506477.1:n.*194del | |
| ENST00000681930.1:n.2550del | ||
| ENST00000370834.9:c.525del | ENSP00000359871.5:p.Lys176ArgfsTer7 | |
| ENST00000370841.8:c.426del | ENSP00000359878.4:p.Lys143ArgfsTer7 | |
| ENST00000420607.6:c.438del | ENSP00000409612.2:p.Lys147ArgfsTer7 | |
| ENST00000525808.5:c.*54+1907del | ENSP00000434823.1:n.*54+1907del | |
| ENST00000526129.5:c.*210del | ENSP00000434092.1:n.*210del | |
| ENST00000526196.5:c.*194del | ENSP00000431953.1:n.*194del | |
| ENST00000526930.1:n.199del | ||
| ENST00000529059.5:n.335del | ||
| ENST00000530953.6:c.119-5151del | ENSP00000431372.1:n.119-5151del | |
| ENST00000532509.5:c.*190del | ENSP00000432522.1:n.*190del | |
| ENST00000534334.5:c.*10del | ENSP00000435584.1:n.*10del | |
| ENST00000541113.5:c.318del | ENSP00000442324.1:p.Lys107ArgfsTer7 | |
| NM_000016.5:c.426del | NP_000007.1:p.Lys143ArgfsTer7 | |
| NM_001127328.2:c.438del | NP_001120800.1:p.Lys147ArgfsTer7 | |
| NM_001286042.1:c.318del | NP_001272971.1:p.Lys107ArgfsTer7 | |
| NM_001286043.1:c.525del | NP_001272972.1:p.Lys176ArgfsTer7 | |
| NM_001286044.1:c.-100+1907del | NP_001272973.1:n.-100+1907del | |
| NM_000016.6:c.426del MANE Select | NP_000007.1:p.Lys143ArgfsTer7 | |
| NM_001127328.3:c.438del | NP_001120800.1:p.Lys147ArgfsTer7 | |
| NM_001286042.2:c.318del | NP_001272971.1:p.Lys107ArgfsTer7 | |
| NM_001286043.2:c.525del | NP_001272972.1:p.Lys176ArgfsTer7 | |
| NM_001286044.2:c.-100+1907del | NP_001272973.1:n.-100+1907del |