Linked Data
dbSNP Id:
rs772749943
ExAC:
1:76226885 TG / T
gnomAD v3:
1-75761200-TG-T
gnomAD v4:
1-75761200-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761203del , CM000663.2:g.75761203del | GRCh38 |
| NC_000001.10:g.76226888del , CM000663.1:g.76226888del | GRCh37 |
| NC_000001.9:g.75999476del | NCBI36 |
| NG_007045.2:g.41846del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1027del MANE Select | ENSP00000359878.5:p.Glu343ArgfsTer26 | |
| ENST00000473018.3:n.3151del | ||
| ENST00000532207.6:n.2038del | ||
| ENST00000541113.6:c.931del | ENSP00000442324.2:p.Glu311ArgfsTer26 | |
| ENST00000679509.1:n.1989del | ||
| ENST00000679530.1:c.*795del | ENSP00000506454.1:n.*795del | |
| ENST00000679615.1:n.3042del | ||
| ENST00000679687.1:c.589del | ENSP00000506598.1:p.Glu197ArgfsTer26 | |
| ENST00000679704.1:c.*793del | ENSP00000505117.1:n.*793del | |
| ENST00000679709.1:c.*990del | ENSP00000506623.1:n.*990del | |
| ENST00000679976.1:c.*611del | ENSP00000505565.1:n.*611del | |
| ENST00000680166.1:n.4316del | ||
| ENST00000680315.1:n.910del | ||
| ENST00000680517.1:c.*415del | ENSP00000505803.1:n.*415del | |
| ENST00000680582.1:n.1989del | ||
| ENST00000680613.1:c.*520del | ENSP00000506114.1:n.*520del | |
| ENST00000680662.1:c.*941del | ENSP00000505080.1:n.*941del | |
| ENST00000680691.1:c.*690del | ENSP00000506487.1:n.*690del | |
| ENST00000680694.1:c.*615del | ENSP00000505658.1:n.*615del | |
| ENST00000680743.1:c.*816del | ENSP00000505073.1:n.*816del | |
| ENST00000680749.1:c.*312del | ENSP00000505122.1:n.*312del | |
| ENST00000680798.1:c.*502del | ENSP00000505670.1:n.*502del | |
| ENST00000680805.1:c.886del | ENSP00000505447.1:p.Glu296ArgfsTer26 | |
| ENST00000680844.1:c.*811del | ENSP00000506541.1:n.*811del | |
| ENST00000680948.1:c.*894del | ENSP00000505441.1:n.*894del | |
| ENST00000680964.1:c.*120del | ENSP00000505961.1:n.*120del | |
| ENST00000681037.1:c.*2511del | ENSP00000506025.1:n.*2511del | |
| ENST00000681063.1:c.*296del | ENSP00000506616.1:n.*296del | |
| ENST00000681209.1:c.*682del | ENSP00000505877.1:n.*682del | |
| ENST00000681278.1:n.1729del | ||
| ENST00000681289.1:n.5022del | ||
| ENST00000681361.1:c.*694del | ENSP00000506679.1:n.*694del | |
| ENST00000681430.1:c.*120del | ENSP00000506301.1:n.*120del | |
| ENST00000681446.1:c.*731del | ENSP00000506244.1:n.*731del | |
| ENST00000681450.1:c.*698del | ENSP00000505660.1:n.*698del | |
| ENST00000681548.1:c.*613del | ENSP00000505275.1:n.*613del | |
| ENST00000681616.1:c.*686del | ENSP00000505111.1:n.*686del | |
| ENST00000681621.1:c.*611del | ENSP00000505770.1:n.*611del | |
| ENST00000681680.1:n.3122del | ||
| ENST00000681720.1:c.*482del | ENSP00000505438.1:n.*482del | |
| ENST00000681730.1:n.1249del | ||
| ENST00000681790.1:c.769del | ENSP00000505130.1:p.Glu257ArgfsTer26 | |
| ENST00000681837.1:n.1643del | ||
| ENST00000681913.1:n.3273del | ||
| ENST00000681916.1:c.*795del | ENSP00000506477.1:n.*795del | |
| ENST00000681930.1:n.3151del | ||
| ENST00000370834.9:c.1126del | ENSP00000359871.5:p.Glu376ArgfsTer26 | |
| ENST00000370841.8:c.1027del | ENSP00000359878.4:p.Glu343ArgfsTer26 | |
| ENST00000420607.6:c.1039del | ENSP00000409612.2:p.Glu347ArgfsTer26 | |
| ENST00000481374.1:n.300del | ||
| ENST00000525808.5:c.*613del | ENSP00000434823.1:n.*613del | |
| ENST00000526129.5:c.*811del | ENSP00000434092.1:n.*811del | |
| ENST00000526196.5:c.*795del | ENSP00000431953.1:n.*795del | |
| ENST00000528016.1:c.160-7974del | ENSP00000434284.1:n.160-7974del | |
| ENST00000529059.5:n.936del | ||
| ENST00000532207.5:n.757del | ||
| ENST00000534334.5:c.*768del | ENSP00000435584.1:n.*768del | |
| ENST00000541113.5:c.919del | ENSP00000442324.1:p.Glu307ArgfsTer26 | |
| NM_000016.5:c.1027del | NP_000007.1:p.Glu343ArgfsTer26 | |
| NM_001127328.2:c.1039del | NP_001120800.1:p.Glu347ArgfsTer26 | |
| NM_001286042.1:c.919del | NP_001272971.1:p.Glu307ArgfsTer26 | |
| NM_001286043.1:c.1126del | NP_001272972.1:p.Glu376ArgfsTer26 | |
| NM_001286044.1:c.460del | NP_001272973.1:p.Glu154ArgfsTer26 | |
| NM_000016.6:c.1027del MANE Select | NP_000007.1:p.Glu343ArgfsTer26 | |
| NM_001127328.3:c.1039del | NP_001120800.1:p.Glu347ArgfsTer26 | |
| NM_001286042.2:c.919del | NP_001272971.1:p.Glu307ArgfsTer26 | |
| NM_001286043.2:c.1126del | NP_001272972.1:p.Glu376ArgfsTer26 | |
| NM_001286044.2:c.460del | NP_001272973.1:p.Glu154ArgfsTer26 |