Linked Data
ClinVar Variation Id:
313799
ClinVar RCV Id:
RCV000334265
dbSNP Id:
rs886050631
gnomAD v4:
14-65075864-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65075867_65075868del , CM000676.2:g.65075867_65075868del | GRCh38 |
| NC_000014.8:g.65542585_65542586del , CM000676.1:g.65542585_65542586del | GRCh37 |
| NC_000014.7:g.64612338_64612339del | NCBI36 |
| NG_029830.1:g.31644_31645del , LRG_530:g.31644_31645del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556892.6:c.*610_*611del | ENSP00000452206.2:n.*610_*611del | |
| ENST00000556979.6:c.*1546_*1547del | ENSP00000452378.1:n.*1546_*1547del | |
| ENST00000358664.9:c.*610_*611del MANE Select | ENSP00000351490.4:n.*610_*611del | |
| ENST00000651648.1:c.145-5497_145-5496del | ENSP00000498863.1:n.145-5497_145-5496del | |
| ENST00000284165.10:c.*1937_*1938del | ENSP00000284165.6:n.*1937_*1938del | |
| ENST00000341653.6:c.171+17842_171+17843del | ENSP00000342482.2:n.171+17842_171+17843de... | |
| ENST00000358402.8:c.*610_*611del | ENSP00000351175.4:n.*610_*611del | |
| ENST00000358664.8:c.*610_*611del | ENSP00000351490.4:n.*610_*611del | |
| ENST00000394606.6:c.*866_*867del | ENSP00000378104.2:n.*866_*867del | |
| ENST00000555932.5:c.*585_*586del | ENSP00000450763.1:n.*585_*586del | |
| ENST00000618858.4:c.*882_*883del | ENSP00000480127.1:n.*882_*883del | |
| NM_001271069.1:c.144+17842_144+17843del | NP_001257998.1:n.144+17842_144+17843del | |
| NM_002382.4:c.*610_*611del | NP_002373.3:n.*610_*611del | |
| NM_145112.2:c.*610_*611del | NP_660087.1:n.*610_*611del | |
| NM_145113.2:c.*882_*883del | NP_660088.1:n.*882_*883del | |
| NM_197957.3:c.171+17842_171+17843del | NP_932061.1:n.171+17842_171+17843del | |
| NR_073137.1:n.1217_1218del | ||
| XR_429315.2:n.1380_1381del | ||
| NM_001320415.1:c.*610_*611del | NP_001307344.1:n.*610_*611del | |
| XM_017021312.2:c.*610_*611del | XP_016876801.1:n.*610_*611del | |
| XM_017021313.1:c.*610_*611del | XP_016876802.1:n.*610_*611del | |
| XR_001750326.2:n.1438_1439del | ||
| XR_001750327.2:n.1357_1358del | ||
| XR_002957553.1:n.1871_1872del | ||
| XR_943450.3:n.1461_1462del | ||
| XR_943451.3:n.1477_1478del | ||
| XR_943452.3:n.1422_1423del | ||
| NM_001320415.2:c.*610_*611del | NP_001307344.1:n.*610_*611del | |
| NM_002382.5:c.*610_*611del MANE Select | NP_002373.3:n.*610_*611del | |
| NM_145112.3:c.*610_*611del | NP_660087.1:n.*610_*611del | |
| NM_145113.3:c.*882_*883del | NP_660088.1:n.*882_*883del | |
| NM_001271069.2:c.144+17842_144+17843del | NP_001257998.1:n.144+17842_144+17843del | |
| NM_197957.4:c.171+17842_171+17843del | NP_932061.1:n.171+17842_171+17843del |