Linked Data
ClinVar Variation Id:
2918569
ClinVar RCV Id:
RCV003619123
dbSNP Id:
rs1247059842
gnomAD v3:
11-71435495-CATGTAGATGATGTAG-C
gnomAD v4:
11-71435495-CATGTAGATGATGTAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435497_71435511del , CM000673.2:g.71435497_71435511del | GRCh38 |
| NC_000011.9:g.71146543_71146557del , CM000673.1:g.71146543_71146557del | GRCh37 |
| NC_000011.8:g.70824191_70824205del | NCBI36 |
| NG_012655.2:g.17922_17936del , LRG_340:g.17922_17936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1293_1307del | ENSP00000435707.3:p.Phe431_Met436delinsLeu | |
| ENST00000526780.6:c.1293_1307del | ENSP00000435668.2:p.Phe431_Met436delinsLeu | |
| ENST00000527316.6:c.1119_1133del | ENSP00000435047.2:p.Phe373_Met378delinsLeu | |
| ENST00000682708.1:c.1344_1358del | ENSP00000506866.1:p.Phe448_Met453delinsLeu | |
| ENST00000683287.1:c.1329_1343del | ENSP00000507607.1:p.Phe443_Met448delinsLeu | |
| ENST00000683714.1:c.*56_*70del | ENSP00000508207.1:n.*56_*70del | |
| ENST00000684396.1:n.1333_1347del | ||
| ENST00000685320.1:c.708_722del | ENSP00000509319.1:p.Phe236_Met241delinsLeu | |
| ENST00000690257.1:c.1197_1211del | ENSP00000510750.1:p.Phe399_Met404delinsLeu | |
| ENST00000355527.8:c.1293_1307del MANE Select | ENSP00000347717.4:p.Phe431_Met436delinsLeu | |
| ENST00000355527.7:c.1293_1307del | ENSP00000347717.3:p.Phe431_Met436delinsLeu | |
| ENST00000407721.6:c.1293_1307del | ENSP00000384739.2:p.Phe431_Met436delinsLeu | |
| ENST00000525137.1:c.794_808del | ENSP00000435956.1:n.794_808del | |
| ENST00000533800.5:c.543_557del | ENSP00000435011.1:p.Phe181_Met186delinsLeu | |
| ENST00000534795.5:c.319+2302_319+2316del | ||
| NM_001163817.1:c.1293_1307del | NP_001157289.1:p.Phe431_Met436delinsLeu | |
| NM_001360.2:c.1293_1307del , LRG_340t1:c.1293_1307del | NP_001351.2:p.Phe431_Met436delinsLeu | |
| XM_011544777.1:c.*56_*70del | XP_011543079.1:n.*56_*70del | |
| XM_011544777.2:c.*56_*70del | XP_011543079.1:n.*56_*70del | |
| NM_001163817.2:c.1293_1307del | NP_001157289.1:p.Phe431_Met436delinsLeu | |
| NM_001360.3:c.1293_1307del MANE Select | NP_001351.2:p.Phe431_Met436delinsLeu |