Linked Data
ClinVar Variation Id:
3592
dbSNP Id:
rs387906297
gnomAD v2:
1-76226960-CAGTT-C
gnomAD v3:
1-75761275-CAGTT-C
gnomAD v4:
1-75761275-CAGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761278_75761281del , CM000663.2:g.75761278_75761281del | GRCh38 |
| NC_000001.10:g.76226963_76226966del , CM000663.1:g.76226963_76226966del | GRCh37 |
| NC_000001.9:g.75999551_75999554del | NCBI36 |
| NG_007045.2:g.41921_41924del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1102_1105del MANE Select | ENSP00000359878.5:p.Ala369LeufsTer18 | |
| ENST00000473018.3:n.3226_3229del | ||
| ENST00000532207.6:n.2113_2116del | ||
| ENST00000541113.6:c.1006_1009del | ENSP00000442324.2:p.Ala337LeufsTer18 | |
| ENST00000679509.1:n.2064_2067del | ||
| ENST00000679530.1:c.*870_*873del | ENSP00000506454.1:n.*870_*873del | |
| ENST00000679615.1:n.3117_3120del | ||
| ENST00000679687.1:c.664_667del | ENSP00000506598.1:p.Ala223LeufsTer18 | |
| ENST00000679704.1:c.*868_*871del | ENSP00000505117.1:n.*868_*871del | |
| ENST00000679709.1:c.*1065_*1068del | ENSP00000506623.1:n.*1065_*1068del | |
| ENST00000679976.1:c.*686_*689del | ENSP00000505565.1:n.*686_*689del | |
| ENST00000680166.1:n.4391_4394del | ||
| ENST00000680315.1:n.985_988del | ||
| ENST00000680517.1:c.*490_*493del | ENSP00000505803.1:n.*490_*493del | |
| ENST00000680582.1:n.2064_2067del | ||
| ENST00000680613.1:c.*595_*598del | ENSP00000506114.1:n.*595_*598del | |
| ENST00000680662.1:c.*1016_*1019del | ENSP00000505080.1:n.*1016_*1019del | |
| ENST00000680691.1:c.*765_*768del | ENSP00000506487.1:n.*765_*768del | |
| ENST00000680694.1:c.*690_*693del | ENSP00000505658.1:n.*690_*693del | |
| ENST00000680743.1:c.*891_*894del | ENSP00000505073.1:n.*891_*894del | |
| ENST00000680749.1:c.*387_*390del | ENSP00000505122.1:n.*387_*390del | |
| ENST00000680798.1:c.*577_*580del | ENSP00000505670.1:n.*577_*580del | |
| ENST00000680805.1:c.961_964del | ENSP00000505447.1:p.Ala322LeufsTer18 | |
| ENST00000680844.1:c.*886_*889del | ENSP00000506541.1:n.*886_*889del | |
| ENST00000680948.1:c.*969_*972del | ENSP00000505441.1:n.*969_*972del | |
| ENST00000680964.1:c.*195_*198del | ENSP00000505961.1:n.*195_*198del | |
| ENST00000681037.1:c.*2586_*2589del | ENSP00000506025.1:n.*2586_*2589del | |
| ENST00000681063.1:c.*371_*374del | ENSP00000506616.1:n.*371_*374del | |
| ENST00000681209.1:c.*757_*760del | ENSP00000505877.1:n.*757_*760del | |
| ENST00000681278.1:n.1804_1807del | ||
| ENST00000681289.1:n.5097_5100del | ||
| ENST00000681361.1:c.*769_*772del | ENSP00000506679.1:n.*769_*772del | |
| ENST00000681430.1:c.*195_*198del | ENSP00000506301.1:n.*195_*198del | |
| ENST00000681446.1:c.*806_*809del | ENSP00000506244.1:n.*806_*809del | |
| ENST00000681450.1:c.*773_*776del | ENSP00000505660.1:n.*773_*776del | |
| ENST00000681548.1:c.*688_*691del | ENSP00000505275.1:n.*688_*691del | |
| ENST00000681616.1:c.*761_*764del | ENSP00000505111.1:n.*761_*764del | |
| ENST00000681621.1:c.*686_*689del | ENSP00000505770.1:n.*686_*689del | |
| ENST00000681680.1:n.3197_3200del | ||
| ENST00000681720.1:c.*557_*560del | ENSP00000505438.1:n.*557_*560del | |
| ENST00000681730.1:n.1324_1327del | ||
| ENST00000681790.1:c.844_847del | ENSP00000505130.1:p.Ala283LeufsTer18 | |
| ENST00000681837.1:n.1718_1721del | ||
| ENST00000681913.1:n.3348_3351del | ||
| ENST00000681916.1:c.*870_*873del | ENSP00000506477.1:n.*870_*873del | |
| ENST00000681930.1:n.3226_3229del | ||
| ENST00000370834.9:c.1201_1204del | ENSP00000359871.5:p.Ala402LeufsTer18 | |
| ENST00000370841.8:c.1102_1105del | ENSP00000359878.4:p.Ala369LeufsTer18 | |
| ENST00000420607.6:c.1114_1117del | ENSP00000409612.2:p.Ala373LeufsTer18 | |
| ENST00000481374.1:n.375_378del | ||
| ENST00000525808.5:c.*688_*691del | ENSP00000434823.1:n.*688_*691del | |
| ENST00000526129.5:c.*886_*889del | ENSP00000434092.1:n.*886_*889del | |
| ENST00000526196.5:c.*870_*873del | ENSP00000431953.1:n.*870_*873del | |
| ENST00000528016.1:c.160-7899_160-7896del | ENSP00000434284.1:n.160-7899_160-7896del | |
| ENST00000529059.5:n.1011_1014del | ||
| ENST00000541113.5:c.994_997del | ENSP00000442324.1:p.Ala333LeufsTer18 | |
| NM_000016.5:c.1102_1105del | NP_000007.1:p.Ala369LeufsTer18 | |
| NM_001127328.2:c.1114_1117del | NP_001120800.1:p.Ala373LeufsTer18 | |
| NM_001286042.1:c.994_997del | NP_001272971.1:p.Ala333LeufsTer18 | |
| NM_001286043.1:c.1201_1204del | NP_001272972.1:p.Ala402LeufsTer18 | |
| NM_001286044.1:c.535_538del | NP_001272973.1:p.Ala180LeufsTer18 | |
| NM_000016.6:c.1102_1105del MANE Select | NP_000007.1:p.Ala369LeufsTer18 | |
| NM_001127328.3:c.1114_1117del | NP_001120800.1:p.Ala373LeufsTer18 | |
| NM_001286042.2:c.994_997del | NP_001272971.1:p.Ala333LeufsTer18 | |
| NM_001286043.2:c.1201_1204del | NP_001272972.1:p.Ala402LeufsTer18 | |
| NM_001286044.2:c.535_538del | NP_001272973.1:p.Ala180LeufsTer18 |