Linked Data
ClinVar Variation Id:
424623
dbSNP Id:
rs1064797076
gnomAD v4:
11-62692384-AGTGAAGTGCGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62692388_62692398del , CM000673.2:g.62692388_62692398del | GRCh38 |
| NC_000011.9:g.62459860_62459870del , CM000673.1:g.62459860_62459870del | GRCh37 |
| NC_000011.8:g.62216436_62216446del | NCBI36 |
| NG_008461.1:g.22180_22190del | |
| NG_033077.1:g.2505_2515del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412351.2:n.1036_1046del (BSCL2) | ||
| ENST00000449636.6:c.352_362del (BSCL2) | ENSP00000405265.2:p.Ala118TrpfsTer? | |
| ENST00000524862.6:c.844_854del (BSCL2) | ENSP00000433888.2:p.Ala282TrpfsTer? | |
| ENST00000682003.1:n.887_897del (BSCL2) | ||
| ENST00000682223.1:c.844_854del (BSCL2) | ENSP00000508140.1:p.Ala282TrpfsTer? | |
| ENST00000682262.1:c.631-974_631-964del (BSCL2) | ENSP00000507103.1:n.631-974_631-964del | |
| ENST00000682555.1:c.762_772del (BSCL2) | ENSP00000507814.1:p.Arg255GlyfsTer? | |
| ENST00000682644.1:n.1236_1246del (BSCL2) | ||
| ENST00000682794.1:n.1154_1164del (BSCL2) | ||
| ENST00000683025.1:c.*491_*501del (BSCL2) | ENSP00000507028.1:n.*491_*501del | |
| ENST00000683296.1:c.844_854del (BSCL2) | ENSP00000507725.1:p.Ala282TrpfsTer? | |
| ENST00000683368.1:n.1035_1045del (BSCL2) | ||
| ENST00000683494.1:n.1425_1435del (BSCL2) | ||
| ENST00000683846.1:n.1184_1194del (BSCL2) | ||
| ENST00000683892.1:n.1346_1356del (BSCL2) | ||
| ENST00000684067.1:c.844_854del (BSCL2) | ENSP00000506799.1:p.Ala282TrpfsTer? | |
| ENST00000684115.1:n.1425_1435del (BSCL2) | ||
| ENST00000684258.1:n.1272_1282del (BSCL2) | ||
| ENST00000684285.1:c.*351_*361del (BSCL2) | ENSP00000507669.1:n.*351_*361del | |
| ENST00000684475.1:c.709_719del (BSCL2) | ENSP00000507429.1:p.Ala237TrpfsTer? | |
| ENST00000684609.1:n.1236_1246del (BSCL2) | ||
| ENST00000684720.1:n.1236_1246del (BSCL2) | ||
| ENST00000360796.10:c.844_854del (BSCL2) MANE Select | ENSP00000354032.5:p.Ala282TrpfsTer? | |
| ENST00000679883.1:c.844_854del (BSCL2) | ENSP00000505838.1:p.Ala282TrpfsTer? | |
| ENST00000278893.11:c.652_662del (BSCL2) | ENSP00000278893.7:p.Ala218TrpfsTer? | |
| ENST00000301781.10:c.789_799del (BSCL2) | ENSP00000301781.5:p.Arg264GlyfsTer? | |
| ENST00000360796.9:c.844_854del (BSCL2) | ENSP00000354032.5:p.Ala282TrpfsTer? | |
| ENST00000403098.6:c.166_176del (BSCL2) | ENSP00000384258.2:p.Ala56TrpfsTer5 | |
| ENST00000403550.5:c.652_662del (BSCL2) | ENSP00000385561.1:p.Ala218TrpfsTer? | |
| ENST00000403734.2:c.*895_*905del (HNRNPUL2-BSCL2) | ENSP00000456010.1:n.*895_*905del | |
| ENST00000405837.5:c.844_854del (BSCL2) | ENSP00000385332.1:p.Ala282TrpfsTer? | |
| ENST00000407022.7:c.652_662del (BSCL2) | ENSP00000384080.3:p.Ala218TrpfsTer? | |
| ENST00000412351.1:n.442_452del (BSCL2) | ||
| ENST00000421906.5:c.652_662del (BSCL2) | ENSP00000413209.1:p.Ala218TrpfsTer? | |
| ENST00000448568.6:c.652_662del (BSCL2) | ENSP00000413340.2:p.Ala218TrpfsTer? | |
| ENST00000468505.5:n.214_224del (BSCL2) | ||
| ENST00000532115.5:n.223_233del (BSCL2) | ||
| NM_001122955.3:c.844_854del (BSCL2) | NP_001116427.1:p.Ala282TrpfsTer? | |
| NM_001130702.2:c.652_662del (BSCL2) | NP_001124174.2:p.Ala218TrpfsTer? | |
| NM_032667.6:c.652_662del (BSCL2) | NP_116056.3:p.Ala218TrpfsTer? | |
| NR_037946.1:n.3364_3374del (HNRNPUL2-BSCL2) | ||
| NR_037948.1:n.1446_1456del (BSCL2) | ||
| NR_037949.1:n.1446_1456del (BSCL2) | ||
| NM_001122955.4:c.844_854del (BSCL2) MANE Select | NP_001116427.1:p.Ala282TrpfsTer? | |
| NM_001386027.1:c.844_854del (BSCL2) | NP_001372956.1:p.Ala282TrpfsTer? | |
| NM_001386028.1:c.844_854del (BSCL2) | NP_001372957.1:p.Ala282TrpfsTer? |