Linked Data
ClinVar Variation Id:
371318
ClinVar RCV Id:
RCV000411115
dbSNP Id:
rs1057517177
gnomAD v4:
8-99142984-TCAACAAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99142986_99142993del , CM000670.2:g.99142986_99142993del | GRCh38 |
| NC_000008.10:g.100155214_100155221del , CM000670.1:g.100155214_100155221del | GRCh37 |
| NC_000008.9:g.100224390_100224397del | NCBI36 |
| NG_007098.2:g.134721_134728del , LRG_351:g.134721_134728del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355155.6:c.1664_1671del | ENSP00000347281.2:p.Gln555LeufsTer7 | |
| ENST00000682145.1:n.1721-4855_1721-4848del | ||
| ENST00000682153.1:c.1664_1671del | ENSP00000507923.1:p.Gln555LeufsTer7 | |
| ENST00000682234.1:c.1664_1671del | ENSP00000508225.1:p.Gln555LeufsTer7 | |
| ENST00000682358.1:n.1734_1741del | ||
| ENST00000682853.1:n.1884_1891del | ||
| ENST00000683334.1:c.1664_1671del | ENSP00000507369.1:p.Gln555LeufsTer7 | |
| ENST00000683486.1:n.1730_1737del | ||
| ENST00000683619.1:n.1767_1774del | ||
| ENST00000683869.1:n.1745_1752del | ||
| ENST00000684308.1:n.1730_1737del | ||
| ENST00000357162.7:c.1664_1671del MANE Select | ENSP00000349685.2:p.Gln555LeufsTer7 | |
| ENST00000358544.7:c.1664_1671del MANE Plus Clinical | ENSP00000351346.2:p.Gln555LeufsTer7 | |
| ENST00000355155.5:c.1664_1671del | ENSP00000347281.1:p.Gln555LeufsTer7 | |
| ENST00000357162.6:c.1664_1671del | ENSP00000349685.2:p.Gln555LeufsTer7 | |
| ENST00000358544.6:c.1664_1671del | ENSP00000351346.2:p.Gln555LeufsTer7 | |
| ENST00000496144.5:c.1664_1671del | ENSP00000430900.1:p.Gln555LeufsTer7 | |
| NM_015243.2:c.1664_1671del , LRG_351t3:c.1664_1671del | NP_056058.2:p.Gln555LeufsTer7 | |
| NM_017890.4:c.1664_1671del , LRG_351t1:c.1664_1671del | NP_060360.3:p.Gln555LeufsTer7 | |
| NM_152564.4:c.1664_1671del , LRG_351t2:c.1664_1671del | NP_689777.3:p.Gln555LeufsTer7 | |
| XM_005250800.2:c.1664_1671del | XP_005250857.1:p.Gln555LeufsTer7 | |
| XM_005250801.3:c.1664_1671del | XP_005250858.1:p.Gln555LeufsTer7 | |
| XM_006716510.2:c.1664_1671del | XP_006716573.1:p.Gln555LeufsTer7 | |
| XM_006716511.2:c.1664_1671del | XP_006716574.1:p.Gln555LeufsTer7 | |
| XM_011516848.1:c.1664_1671del | XP_011515150.1:p.Gln555LeufsTer7 | |
| XM_011516849.1:c.1664_1671del | XP_011515151.1:p.Gln555LeufsTer7 | |
| XM_011516850.1:c.1286_1293del | XP_011515152.1:p.Gln429LeufsTer7 | |
| XM_011516853.1:c.1664_1671del | XP_011515155.1:p.Gln555LeufsTer7 | |
| XM_011516855.1:c.1664_1671del | XP_011515157.1:p.Gln555LeufsTer7 | |
| XM_011516856.1:c.1664_1671del | XP_011515158.1:p.Gln555LeufsTer7 | |
| XM_011516857.1:c.1664_1671del | XP_011515159.1:p.Gln555LeufsTer7 | |
| XM_011516858.1:c.1664_1671del | XP_011515160.1:p.Gln555LeufsTer7 | |
| XM_011516859.1:c.1664_1671del | XP_011515161.1:p.Gln555LeufsTer7 | |
| XM_011516860.1:c.1664_1671del | XP_011515162.1:p.Gln555LeufsTer7 | |
| XM_011516861.1:c.1664_1671del | XP_011515163.1:p.Gln555LeufsTer7 | |
| XM_011516862.1:c.1664_1671del | XP_011515164.1:p.Gln555LeufsTer7 | |
| XM_011516863.1:c.1664_1671del | XP_011515165.1:p.Gln555LeufsTer7 | |
| XM_011516864.1:c.1664_1671del | XP_011515166.1:p.Gln555LeufsTer7 | |
| XM_011516865.1:c.1664_1671del | XP_011515167.1:p.Gln555LeufsTer7 | |
| XM_011516866.1:c.1664_1671del | XP_011515168.1:p.Gln555LeufsTer7 | |
| XR_928301.1:n.1767_1774del | ||
| XR_928302.1:n.1767_1774del | ||
| XR_928303.1:n.1767_1774del | ||
| XR_928304.1:n.1767_1774del | ||
| XM_005250800.3:c.1664_1671del | XP_005250857.1:p.Gln555LeufsTer7 | |
| XM_005250801.5:c.1664_1671del | XP_005250858.1:p.Gln555LeufsTer7 | |
| XM_006716510.3:c.1664_1671del | XP_006716573.1:p.Gln555LeufsTer7 | |
| XM_011516848.2:c.1664_1671del | XP_011515150.1:p.Gln555LeufsTer7 | |
| XM_011516849.2:c.1664_1671del | XP_011515151.1:p.Gln555LeufsTer7 | |
| XM_011516850.2:c.1286_1293del | XP_011515152.1:p.Gln429LeufsTer7 | |
| XM_011516853.2:c.1664_1671del | XP_011515155.1:p.Gln555LeufsTer7 | |
| XM_011516859.2:c.1664_1671del | XP_011515161.1:p.Gln555LeufsTer7 | |
| XM_011516866.2:c.1664_1671del | XP_011515168.1:p.Gln555LeufsTer7 | |
| XM_017013109.1:c.1664_1671del | XP_016868598.1:p.Gln555LeufsTer7 | |
| XM_024447074.1:c.449_456del | XP_024302842.1:p.Gln150LeufsTer7 | |
| XM_024447075.1:c.1664_1671del | XP_024302843.1:p.Gln555LeufsTer7 | |
| XR_001745481.1:n.1767_1774del | ||
| XR_001745482.2:n.1767_1774del | ||
| XR_001745484.2:n.1767_1774del | ||
| XR_002956601.1:n.1767_1774del | ||
| XR_002956602.1:n.1767_1774del | ||
| XR_928302.2:n.1767_1774del | ||
| NM_015243.3:c.1664_1671del | NP_056058.2:p.Gln555LeufsTer7 | |
| NM_017890.5:c.1664_1671del MANE Plus Clinical | NP_060360.3:p.Gln555LeufsTer7 | |
| NM_152564.5:c.1664_1671del MANE Select | NP_689777.3:p.Gln555LeufsTer7 |