Linked Data
ClinVar Variation Id:
242814
ClinVar RCV Id:
RCV003607274
dbSNP Id:
rs878854340
gnomAD v4:
17-17215312-AAACTCTGTAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17215316_17215326del , CM000679.2:g.17215316_17215326del | GRCh38 |
| NC_000017.10:g.17118630_17118640del , CM000679.1:g.17118630_17118640del | GRCh37 |
| NC_000017.9:g.17059355_17059365del | NCBI36 |
| NG_008001.2:g.26866_26876del , LRG_325:g.26866_26876del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000285071.9:c.1301-7_1304del (FLCN) | ||
| ENST00000285071.8:c.1301-7_1304del (FLCN) | ||
| ENST00000427497.3:c.*135-7_*138del | ||
| ENST00000578209.5:c.562-2174_562-2164del (MPRIP) | ||
| NM_144997.5:c.1301-7_1304del , LRG_325t1:c.1301-7_1304del (FLCN) | ||
| XM_011523714.1:c.1355-7_1358del (FLCN) | ||
| XM_011523715.1:c.1355-7_1358del (FLCN) | ||
| XM_011523716.1:c.1355-7_1358del (FLCN) | ||
| XM_011523717.1:c.1355-7_1358del (FLCN) | ||
| XM_011523718.1:c.1355-7_1358del (FLCN) | ||
| XM_011523719.1:c.1355-7_1358del (FLCN) | ||
| XM_011523720.1:c.1079-7_1082del (FLCN) | ||
| XM_011523721.1:c.1355-7_1358del (FLCN) | ||
| XR_934007.1:n.2571-7_2574del (FLCN) | ||
| NM_001353229.1:c.1355-7_1358del (FLCN) | ||
| NM_001353230.1:c.1301-7_1304del (FLCN) | ||
| NM_001353231.1:c.1301-7_1304del (FLCN) | ||
| NM_144997.6:c.1301-7_1304del (FLCN) | ||
| XM_011523714.3:c.1355-7_1358del (FLCN) | ||
| XM_011523718.3:c.1355-7_1358del (FLCN) | ||
| XM_011523719.3:c.1355-7_1358del (FLCN) | ||
| XM_011523721.3:c.1355-7_1358del (FLCN) | ||
| XM_017024305.2:c.1355-7_1358del (FLCN) | ||
| XM_017024308.1:c.1301-7_1304del (FLCN) | ||
| XM_017024309.2:c.1079-7_1082del (FLCN) | ||
| XM_024450635.1:c.1355-7_1358del (FLCN) | ||
| XR_001752445.2:n.1735-7_1738del (FLCN) | ||
| NM_144997.7:c.1301-7_1304del (FLCN) | ||
| NM_001353229.2:c.1355-7_1358del (FLCN) | ||
| NM_001353230.2:c.1301-7_1304del (FLCN) | ||
| NM_001353231.2:c.1301-7_1304del (FLCN) |