gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17216511_17216513del , CM000679.2:g.17216511_17216513del | GRCh38 |
| NC_000017.10:g.17119825_17119827del , CM000679.1:g.17119825_17119827del | GRCh37 |
| NC_000017.9:g.17060550_17060552del | NCBI36 |
| NG_008001.2:g.25681_25683del , LRG_325:g.25681_25683del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.1177-5_1177-3del (FLCN) MANE Select | ENSP00000285071.4:n.1177-5_1177-3del | |
| ENST00000285071.8:c.1177-5_1177-3del (FLCN) | ENSP00000285071.4:n.1177-5_1177-3del | |
| ENST00000427497.3:c.*11-5_*11-3del | ENSP00000394249.3:n.*11-5_*11-3del | |
| ENST00000578209.5:c.562-979_562-977del (MPRIP) | ||
| NM_144997.5:c.1177-5_1177-3del , LRG_325t1:c.1177-5_1177-3del (FLCN) | NP_659434.2:n.1177-5_1177-3del | |
| XM_011523714.1:c.1231-5_1231-3del (FLCN) | XP_011522016.1:n.1231-5_1231-3del | |
| XM_011523715.1:c.1231-5_1231-3del (FLCN) | XP_011522017.1:n.1231-5_1231-3del | |
| XM_011523716.1:c.1231-5_1231-3del (FLCN) | XP_011522018.1:n.1231-5_1231-3del | |
| XM_011523717.1:c.1231-5_1231-3del (FLCN) | XP_011522019.1:n.1231-5_1231-3del | |
| XM_011523718.1:c.1231-5_1231-3del (FLCN) | XP_011522020.1:n.1231-5_1231-3del | |
| XM_011523719.1:c.1231-5_1231-3del (FLCN) | XP_011522021.1:n.1231-5_1231-3del | |
| XM_011523720.1:c.955-5_955-3del (FLCN) | XP_011522022.1:n.955-5_955-3del | |
| XM_011523721.1:c.1231-5_1231-3del (FLCN) | XP_011522023.1:n.1231-5_1231-3del | |
| XR_934007.1:n.2570+561_2570+563del (FLCN) | ||
| NM_001353229.1:c.1231-5_1231-3del (FLCN) | NP_001340158.1:n.1231-5_1231-3del | |
| NM_001353230.1:c.1177-5_1177-3del (FLCN) | NP_001340159.1:n.1177-5_1177-3del | |
| NM_001353231.1:c.1177-5_1177-3del (FLCN) | NP_001340160.1:n.1177-5_1177-3del | |
| NM_144997.6:c.1177-5_1177-3del (FLCN) | NP_659434.2:n.1177-5_1177-3del | |
| XM_011523714.3:c.1231-5_1231-3del (FLCN) | XP_011522016.1:n.1231-5_1231-3del | |
| XM_011523718.3:c.1231-5_1231-3del (FLCN) | XP_011522020.1:n.1231-5_1231-3del | |
| XM_011523719.3:c.1231-5_1231-3del (FLCN) | XP_011522021.1:n.1231-5_1231-3del | |
| XM_011523721.3:c.1231-5_1231-3del (FLCN) | XP_011522023.1:n.1231-5_1231-3del | |
| XM_017024305.2:c.1231-5_1231-3del (FLCN) | XP_016879794.1:n.1231-5_1231-3del | |
| XM_017024308.1:c.1177-5_1177-3del (FLCN) | XP_016879797.1:n.1177-5_1177-3del | |
| XM_017024309.2:c.955-5_955-3del (FLCN) | XP_016879798.1:n.955-5_955-3del | |
| XM_024450635.1:c.1231-5_1231-3del (FLCN) | XP_024306403.1:n.1231-5_1231-3del | |
| XR_001752445.2:n.1734+561_1734+563del (FLCN) | ||
| NM_144997.7:c.1177-5_1177-3del (FLCN) MANE Select | NP_659434.2:n.1177-5_1177-3del | |
| NM_001353229.2:c.1231-5_1231-3del (FLCN) | NP_001340158.1:n.1231-5_1231-3del | |
| NM_001353230.2:c.1177-5_1177-3del (FLCN) | NP_001340159.1:n.1177-5_1177-3del | |
| NM_001353231.2:c.1177-5_1177-3del (FLCN) | NP_001340160.1:n.1177-5_1177-3del |