Canonical Allele Identifier: CA2636349613

Gene: FLCN MPRIP

Linked Data

• gnomAD v4: 17-17216331-GGGGAACCTCAGCGCAGGGCATGGCCCCACAGCCCGCGGGGGCACGCACCTGAGGAGAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17216332_17216391del , CM000679.2:g.17216332_17216391del	GRCh38
NC_000017.10:g.17119646_17119705del , CM000679.1:g.17119646_17119705del	GRCh37
NC_000017.9:g.17060371_17060430del	NCBI36
NG_008001.2:g.25798_25857del , LRG_325:g.25798_25857del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.1289_1300+48del (FLCN)
ENST00000285071.8:c.1289_1300+48del (FLCN)
ENST00000427497.3:c.*123_*134+48del
ENST00000578209.5:c.562-1158_562-1099del (MPRIP)
NM_144997.5:c.1289_1300+48del , LRG_325t1:c.1289_1300+48del (FLCN)
XM_011523714.1:c.1343_1354+48del (FLCN)
XM_011523715.1:c.1343_1354+48del (FLCN)
XM_011523716.1:c.1343_1354+48del (FLCN)
XM_011523717.1:c.1343_1354+48del (FLCN)
XM_011523718.1:c.1343_1354+48del (FLCN)
XM_011523719.1:c.1343_1354+48del (FLCN)
XM_011523720.1:c.1067_1078+48del (FLCN)
XM_011523721.1:c.1343_1354+48del (FLCN)
XR_934007.1:n.2570+678_2570+737del (FLCN)
NM_001353229.1:c.1343_1354+48del (FLCN)
NM_001353230.1:c.1289_1300+48del (FLCN)
NM_001353231.1:c.1289_1300+48del (FLCN)
NM_144997.6:c.1289_1300+48del (FLCN)
XM_011523714.3:c.1343_1354+48del (FLCN)
XM_011523718.3:c.1343_1354+48del (FLCN)
XM_011523719.3:c.1343_1354+48del (FLCN)
XM_011523721.3:c.1343_1354+48del (FLCN)
XM_017024305.2:c.1343_1354+48del (FLCN)
XM_017024308.1:c.1289_1300+48del (FLCN)
XM_017024309.2:c.1067_1078+48del (FLCN)
XM_024450635.1:c.1343_1354+48del (FLCN)
XR_001752445.2:n.1734+678_1734+737del (FLCN)
NM_144997.7:c.1289_1300+48del (FLCN)
NM_001353229.2:c.1343_1354+48del (FLCN)
NM_001353230.2:c.1289_1300+48del (FLCN)
NM_001353231.2:c.1289_1300+48del (FLCN)