Canonical Allele Identifier: CA2580614019

Linked Data

ClinVar Variation Id: 2502847
ClinVar RCV Id: RCV003229505

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17215970_17217336dup , CM000679.2:g.17215970_17217336dup GRCh38
NC_000017.10:g.17119284_17120650dup , CM000679.1:g.17119284_17120650dup GRCh37
NC_000017.9:g.17060009_17061375dup NCBI36
NG_008001.2:g.24856_26222dup , LRG_325:g.24856_26222dup

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1063-151_1300+413dup (FLCN)
ENST00000285071.8:c.1063-151_1300+413dup (FLCN)
ENST00000427497.3:c.185-151_*134+413dup
ENST00000578209.5:c.562-1520_562-154dup (MPRIP)
NM_144997.5:c.1063-151_1300+413dup , LRG_325t1:c.1063-151_1300+413dup (FLCN)
XM_011523714.1:c.1117-151_1354+413dup (FLCN)
XM_011523715.1:c.1117-151_1354+413dup (FLCN)
XM_011523716.1:c.1117-151_1354+413dup (FLCN)
XM_011523717.1:c.1117-151_1354+413dup (FLCN)
XM_011523718.1:c.1117-151_1354+413dup (FLCN)
XM_011523719.1:c.1117-151_1354+413dup (FLCN)
XM_011523720.1:c.841-151_1078+413dup (FLCN)
XM_011523721.1:c.1117-151_1354+413dup (FLCN)
XR_934007.1:n.2457-151_2571-651dup (FLCN)
NM_001353229.1:c.1117-151_1354+413dup (FLCN)
NM_001353230.1:c.1063-151_1300+413dup (FLCN)
NM_001353231.1:c.1063-151_1300+413dup (FLCN)
NM_144997.6:c.1063-151_1300+413dup (FLCN)
XM_011523714.3:c.1117-151_1354+413dup (FLCN)
XM_011523718.3:c.1117-151_1354+413dup (FLCN)
XM_011523719.3:c.1117-151_1354+413dup (FLCN)
XM_011523721.3:c.1117-151_1354+413dup (FLCN)
XM_017024305.2:c.1117-151_1354+413dup (FLCN)
XM_017024308.1:c.1063-151_1300+413dup (FLCN)
XM_017024309.2:c.841-151_1078+413dup (FLCN)
XM_024450635.1:c.1117-151_1354+413dup (FLCN)
XR_001752445.2:n.1621-151_1735-651dup (FLCN)
NM_144997.7:c.1063-151_1300+413dup (FLCN)
NM_001353229.2:c.1117-151_1354+413dup (FLCN)
NM_001353230.2:c.1063-151_1300+413dup (FLCN)
NM_001353231.2:c.1063-151_1300+413dup (FLCN)