Linked Data
ClinVar Variation Id:
376287
ClinVar RCV Id:
RCV000432391
dbSNP Id:
rs121913226
COSMIC:
COSM30594
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753332_140753334del , CM000669.2:g.140753332_140753334del | GRCh38 |
| NC_000007.13:g.140453132_140453134del , CM000669.1:g.140453132_140453134del | GRCh37 |
| NC_000007.12:g.140099601_140099603del | NCBI36 |
| NG_007873.3:g.176431_176433del , LRG_299:g.176431_176433del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1801_1803del MANE Select | ENSP00000493543.1:p.Lys601del | |
| ENST00000288602.11:c.1921_1923del | ENSP00000288602.7:p.Lys641del | |
| ENST00000479537.6:c.471_473del | ||
| ENST00000496384.7:c.1801_1803del | ENSP00000419060.2:p.Lys601del | |
| ENST00000497784.2:c.*1251_*1253del | ENSP00000420119.2:n.*1251_*1253del | |
| ENST00000642228.1:c.*879_*881del | ENSP00000493678.1:n.*879_*881del | |
| ENST00000642875.1:n.1259-3916_1259-3914del | ||
| ENST00000644120.1:n.2191_2193del | ||
| ENST00000644650.1:c.897_899del | ||
| ENST00000644905.1:n.2683_2685del | ||
| ENST00000644969.2:c.1921_1923del MANE Plus Clinical | ENSP00000496776.1:p.Lys641del | |
| ENST00000646730.1:c.*377_*379del | ENSP00000494784.1:n.*377_*379del | |
| ENST00000646891.1:c.1801_1803del | ENSP00000493543.1:p.Lys601del | |
| ENST00000647434.1:c.738-3916_738-3914del | ENSP00000495132.1:n.738-3916_738-3914del | |
| ENST00000288602.10:c.1801_1803del | ENSP00000288602.6:p.Lys601del | |
| ENST00000479537.5:c.85_87del | ENSP00000418033.1:p.Lys29del | |
| ENST00000496384.6:c.624_626del | ||
| ENST00000497784.1:c.1836_1838del | ENSP00000420119.1:n.1836_1838del | |
| NM_004333.4:c.1801_1803del , LRG_299t1:c.1801_1803del | NP_004324.2:p.Lys601del | |
| XM_005250045.1:c.1801_1803del | XP_005250102.1:p.Lys601del | |
| XM_005250046.1:c.1801_1803del | XP_005250103.1:p.Lys601del | |
| XM_011516529.1:c.1801_1803del | XP_011514831.1:p.Lys601del | |
| XM_011516530.1:c.1695-3916_1695-3914del | XP_011514832.1:n.1695-3916_1695-3914del | |
| XR_242190.1:n.1809_1811del | ||
| XR_927520.1:n.1809_1811del | ||
| XR_927521.1:n.1809_1811del | ||
| XR_927522.1:n.1703-3916_1703-3914del | ||
| XR_927523.1:n.1703-3916_1703-3914del | ||
| NM_001354609.1:c.1801_1803del | NP_001341538.1:p.Lys601del | |
| NM_004333.5:c.1801_1803del | NP_004324.2:p.Lys601del | |
| NR_148928.1:n.2899_2901del | ||
| XM_017012558.1:c.1921_1923del | XP_016868047.1:p.Lys641del | |
| XM_017012559.1:c.1921_1923del | XP_016868048.1:p.Lys641del | |
| XR_001744857.1:n.1929_1931del | ||
| XR_001744858.1:n.1823-3916_1823-3914del | ||
| NM_001354609.2:c.1801_1803del | NP_001341538.1:p.Lys601del | |
| NM_001374244.1:c.1921_1923del | NP_001361173.1:p.Lys641del | |
| NM_001374258.1:c.1921_1923del MANE Plus Clinical | NP_001361187.1:p.Lys641del | |
| NM_004333.6:c.1801_1803del MANE Select | NP_004324.2:p.Lys601del | |
| NM_001378467.1:c.1810_1812del | NP_001365396.1:p.Lys604del | |
| NM_001378468.1:c.1801_1803del | NP_001365397.1:p.Lys601del | |
| NM_001378469.1:c.1735_1737del | NP_001365398.1:p.Lys579del | |
| NM_001378470.1:c.1699_1701del | NP_001365399.1:p.Lys567del | |
| NM_001378471.1:c.1690_1692del | NP_001365400.1:p.Lys564del | |
| NM_001378472.1:c.1645_1647del | NP_001365401.1:p.Lys549del | |
| NM_001378473.1:c.1645_1647del | NP_001365402.1:p.Lys549del | |
| NM_001378474.1:c.1801_1803del | NP_001365403.1:p.Lys601del | |
| NM_001378475.1:c.1537_1539del | NP_001365404.1:p.Lys513del |