Linked Data
ClinVar Variation Id:
225381
ClinVar RCV Id:
RCV001853387
dbSNP Id:
rs1085307068
gnomAD v4:
1-170539554-AAG-A
PubMed:
PMID:18997784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.170539556_170539557del , CM000663.2:g.170539556_170539557del | GRCh38 |
| NC_000001.10:g.170508697_170508698del , CM000663.1:g.170508697_170508698del | GRCh37 |
| NC_000001.9:g.168775321_168775322del | NCBI36 |
| NG_012237.1:g.12435_12436del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684929.1:n.377_378del | ||
| ENST00000685515.1:c.*272_*273del | ENSP00000509073.1:n.*272_*273del | |
| ENST00000685976.1:n.513_514del | ||
| ENST00000686135.1:n.1868_1869del | ||
| ENST00000686870.1:c.408_409del | ENSP00000510121.1:p.Lys137SerfsTer20 | |
| ENST00000687370.1:n.3424_3425del | ||
| ENST00000687880.1:c.*402_*403del | ENSP00000508486.1:n.*402_*403del | |
| ENST00000688499.1:c.*272_*273del | ENSP00000509581.1:n.*272_*273del | |
| ENST00000688688.1:c.357_358del | ENSP00000510426.1:p.Lys120SerfsTer24 | |
| ENST00000689173.1:c.*402_*403del | ENSP00000509341.1:n.*402_*403del | |
| ENST00000690124.1:n.572_573del | ||
| ENST00000690898.1:n.597_598del | ||
| ENST00000691199.1:n.191-2935_191-2934del | ||
| ENST00000691235.1:n.139-2935_139-2934del | ||
| ENST00000691574.1:n.442_443del | ||
| ENST00000692234.1:c.*272_*273del | ENSP00000508508.1:n.*272_*273del | |
| ENST00000692855.1:n.559_560del | ||
| ENST00000692875.1:c.357_358del | ENSP00000508785.1:p.Lys120SerfsTer20 | |
| ENST00000693173.1:c.*402_*403del | ENSP00000510143.1:n.*402_*403del | |
| ENST00000693373.1:n.396_397del | ||
| ENST00000367762.2:c.408_409del | ENSP00000356736.2:p.Lys137SerfsTer24 | |
| ENST00000367763.8:c.408_409del MANE Select | ENSP00000356737.4:p.Lys137SerfsTer24 | |
| ENST00000498166.6:c.*402_*403del | ENSP00000473336.2:n.*402_*403del | |
| ENST00000367762.1:c.483_484del | ENSP00000356736.1:p.Lys162SerfsTer24 | |
| ENST00000367763.7:c.483_484del | ENSP00000356737.3:p.Lys162SerfsTer24 | |
| ENST00000465717.1:n.494_495del | ||
| ENST00000498166.5:c.781_782del | ||
| ENST00000498600.2:n.495_496del | ||
| NM_001146039.1:c.483_484del | NP_001139511.1:p.Lys162SerfsTer24 | |
| NM_152281.2:c.483_484del | NP_689494.2:p.Lys162SerfsTer24 | |
| NR_027397.1:n.510_511del | ||
| XM_006711628.2:c.-62_-61del | XP_006711691.1:n.-62_-61del | |
| XM_006711629.2:c.-58_-57del | XP_006711692.1:n.-58_-57del | |
| XM_011510149.1:c.432_433del | XP_011508451.1:p.Lys145SerfsTer24 | |
| XM_011510150.1:c.-62_-61del | XP_011508452.1:n.-62_-61del | |
| XM_011510151.1:c.-62_-61del | XP_011508453.1:n.-62_-61del | |
| NM_001320252.1:c.-58_-57del | NP_001307181.1:n.-58_-57del | |
| XM_006711628.4:c.-62_-61del | XP_006711691.1:n.-62_-61del | |
| XM_011510149.2:c.432_433del | XP_011508451.1:p.Lys145SerfsTer24 | |
| XM_011510150.3:c.-62_-61del | XP_011508452.1:n.-62_-61del | |
| XM_017002807.1:c.-62_-61del | XP_016858296.1:n.-62_-61del | |
| XM_024450864.1:c.-58_-57del | XP_024306632.1:n.-58_-57del | |
| NM_001146039.2:c.408_409del | NP_001139511.2:p.Lys137SerfsTer24 | |
| NM_001320252.2:c.-58_-57del | NP_001307181.1:n.-58_-57del | |
| NM_152281.3:c.408_409del MANE Select | NP_689494.3:p.Lys137SerfsTer24 | |
| NR_027397.2:n.466_467del |