Linked Data
ClinVar Variation Id:
218905
ClinVar RCV Id:
RCV000203254
dbSNP Id:
rs864309662
PubMed:
PMID:26626625
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69922770del , CM000672.2:g.69922770del | GRCh38 |
| NC_000010.10:g.71682526del , CM000672.1:g.71682526del | GRCh37 |
| NC_000010.9:g.71352532del | NCBI36 |
| NG_046344.1:g.125883del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398969.8:c.1232del | ENSP00000381941.5:n.1232del | |
| ENST00000673628.2:c.1107del | ENSP00000501050.2:p.Leu370SerfsTer? | |
| ENST00000673641.2:c.1107del | ENSP00000501125.2:p.Leu370SerfsTer? | |
| ENST00000673802.2:c.1029del | ENSP00000501147.2:p.Leu344SerfsTer? | |
| ENST00000673914.2:c.1039del | ENSP00000501202.2:n.1039del | |
| ENST00000673957.2:c.1144del | ENSP00000500966.2:n.1144del | |
| ENST00000674008.2:c.1233del | ENSP00000501091.2:n.1233del | |
| ENST00000674040.2:c.1196del | ENSP00000501131.2:n.1196del | |
| ENST00000674124.2:c.860del | ENSP00000501072.2:n.860del | |
| ENST00000682048.1:n.393del | ||
| ENST00000682511.1:n.116del | ||
| ENST00000682679.1:c.1232del | ENSP00000507571.1:n.1232del | |
| ENST00000683194.1:n.630del | ||
| ENST00000683633.1:n.558del | ||
| ENST00000683667.1:n.630del | ||
| ENST00000683993.1:n.393del | ||
| ENST00000684309.1:n.630del | ||
| ENST00000684323.1:n.114del | ||
| ENST00000684376.1:n.116del | ||
| ENST00000684387.1:n.824del | ||
| ENST00000357811.8:c.1170del | ENSP00000350463.4:p.Leu391SerfsTer? | |
| ENST00000398978.8:c.1173del | ENSP00000381949.3:p.Leu392SerfsTer? | |
| ENST00000645393.2:c.1206del MANE Select | ENSP00000496051.1:p.Leu403SerfsTer? | |
| ENST00000673628.1:c.998del | ||
| ENST00000673641.1:c.923del | ||
| ENST00000673802.1:c.845del | ||
| ENST00000673842.1:c.1119del | ENSP00000501058.1:p.Leu374SerfsTer? | |
| ENST00000673850.1:c.116del | ||
| ENST00000673914.1:c.956del | ||
| ENST00000673931.1:c.125del | ||
| ENST00000673957.1:c.933del | ||
| ENST00000674008.1:c.1196del | ||
| ENST00000674040.1:c.1113del | ||
| ENST00000674050.1:c.484del | ||
| ENST00000674121.1:c.1002del | ENSP00000501084.1:p.Leu335SerfsTer? | |
| ENST00000674124.1:c.558del | ENSP00000501072.1:p.Leu187SerfsTer? | |
| ENST00000354547.7:c.1107del | ENSP00000346553.3:p.Leu370SerfsTer? | |
| ENST00000357811.7:c.1107del | ENSP00000350463.3:p.Leu370SerfsTer? | |
| ENST00000398969.7:c.993del | ENSP00000381941.4:p.Leu332SerfsTer? | |
| ENST00000398978.7:c.1173del | ENSP00000381949.3:p.Leu392SerfsTer? | |
| ENST00000479733.5:c.1200del | ENSP00000430089.1:p.Leu401SerfsTer? | |
| ENST00000517713.5:c.1107del | ENSP00000430061.1:p.Leu370SerfsTer? | |
| ENST00000520133.5:c.1020del | ENSP00000430173.1:p.Leu341SerfsTer? | |
| ENST00000520267.5:c.1002del | ENSP00000428057.1:p.Leu335SerfsTer? | |
| ENST00000522165.5:c.1116del | ENSP00000428342.1:p.Leu373SerfsTer? | |
| NM_001130103.1:c.1173del | NP_001123575.1:p.Leu392SerfsTer? | |
| NM_080798.3:c.1002del | NP_542988.3:p.Leu335SerfsTer? | |
| NM_080800.3:c.1116del | NP_542990.3:p.Leu373SerfsTer? | |
| NM_080801.3:c.1107del | NP_542991.3:p.Leu370SerfsTer? | |
| NM_080802.3:c.1107del | NP_542992.3:p.Leu370SerfsTer? | |
| NM_080805.3:c.1020del | NP_542995.3:p.Leu341SerfsTer? | |
| XM_011539292.1:c.1206del | XP_011537594.1:p.Leu403SerfsTer? | |
| XM_011539293.1:c.1206del | XP_011537595.1:p.Leu403SerfsTer? | |
| XM_011539294.1:c.1143del | XP_011537596.1:p.Leu382SerfsTer? | |
| XM_011539295.1:c.1206del | XP_011537597.1:p.Leu403SerfsTer? | |
| NM_001320951.1:c.1143del | NP_001307880.1:p.Leu382SerfsTer? | |
| XM_011539292.3:c.1206del | XP_011537594.1:p.Leu403SerfsTer? | |
| XM_011539293.3:c.1206del | XP_011537595.1:p.Leu403SerfsTer? | |
| XM_011539294.3:c.1143del | XP_011537596.1:p.Leu382SerfsTer? | |
| XM_011539295.3:c.1206del | XP_011537597.1:p.Leu403SerfsTer? | |
| XM_017015676.2:c.1206del | XP_016871165.1:p.Leu403SerfsTer? | |
| XM_017015677.2:c.1206del | XP_016871166.1:p.Leu403SerfsTer? | |
| XM_017015679.2:c.1206del | XP_016871168.1:p.Leu403SerfsTer? | |
| XM_017015680.2:c.1206del | XP_016871169.1:p.Leu403SerfsTer? | |
| XM_017015681.2:c.1143del | XP_016871170.1:p.Leu382SerfsTer? | |
| XM_017015682.2:c.1206del | XP_016871171.1:p.Leu403SerfsTer? | |
| XM_017015683.2:c.1170del | XP_016871172.1:p.Leu391SerfsTer? | |
| XM_017015684.2:c.1107del | XP_016871173.1:p.Leu370SerfsTer? | |
| XM_017015685.2:c.1143del | XP_016871174.1:p.Leu382SerfsTer? | |
| XM_017015686.2:c.1143del | XP_016871175.1:p.Leu382SerfsTer? | |
| XM_017015687.2:c.1206del | XP_016871176.1:p.Leu403SerfsTer? | |
| XM_017015688.2:c.1143del | XP_016871177.1:p.Leu382SerfsTer? | |
| XM_017015689.2:c.1143del | XP_016871178.1:p.Leu382SerfsTer? | |
| XM_017015690.2:c.1116del | XP_016871179.1:p.Leu373SerfsTer? | |
| XM_017015691.2:c.1143del | XP_016871180.1:p.Leu382SerfsTer? | |
| XM_017015692.2:c.1107del | XP_016871181.1:p.Leu370SerfsTer? | |
| XM_017015693.2:c.1143del | XP_016871182.1:p.Leu382SerfsTer? | |
| XM_017015694.2:c.1002del | XP_016871183.1:p.Leu335SerfsTer? | |
| XM_017015695.2:c.1002del | XP_016871184.1:p.Leu335SerfsTer? | |
| XM_017015697.2:c.543del | XP_016871186.1:p.Leu182SerfsTer? | |
| XM_024447815.1:c.1206del | XP_024303583.1:p.Leu403SerfsTer? | |
| XM_024447816.1:c.1020del | XP_024303584.1:p.Leu341SerfsTer? | |
| XM_024447817.1:c.1029del | XP_024303585.1:p.Leu344SerfsTer? | |
| XM_024447818.1:c.1002del | XP_024303586.1:p.Leu335SerfsTer? | |
| XR_001747024.2:n.1769del | ||
| NM_001130103.2:c.1173del | NP_001123575.1:p.Leu392SerfsTer? | |
| NM_001320951.2:c.1143del | NP_001307880.1:p.Leu382SerfsTer? | |
| NM_001368882.1:c.1206del MANE Select | NP_001355811.1:p.Leu403SerfsTer? | |
| NM_001368883.1:c.1170del | NP_001355812.1:p.Leu391SerfsTer? | |
| NM_001368884.1:c.1143del | NP_001355813.1:p.Leu382SerfsTer? | |
| NM_001368885.1:c.1107del | NP_001355814.1:p.Leu370SerfsTer? | |
| NM_001368886.1:c.543del | NP_001355815.1:p.Leu182SerfsTer? | |
| NM_001368895.1:c.1116del | NP_001355824.1:p.Leu373SerfsTer? | |
| NM_001368896.1:c.1002del | NP_001355825.1:p.Leu335SerfsTer? | |
| NM_001368897.1:c.1029del | NP_001355826.1:p.Leu344SerfsTer? | |
| NM_001368898.1:c.1002del | NP_001355827.1:p.Leu335SerfsTer? | |
| NM_080798.4:c.1002del | NP_542988.3:p.Leu335SerfsTer? | |
| NM_080800.4:c.1116del | NP_542990.3:p.Leu373SerfsTer? | |
| NM_080801.4:c.1107del | NP_542991.3:p.Leu370SerfsTer? | |
| NM_080802.4:c.1107del | NP_542992.3:p.Leu370SerfsTer? | |
| NM_080805.4:c.1020del | NP_542995.3:p.Leu341SerfsTer? |