Canonical Allele Identifier: CA1139771093
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 1361582
ClinVar RCV Id: RCV001899744
dbSNP Id: rs2144979340

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17224062_17224065dup , CM000679.2:g.17224062_17224065dup GRCh38
NC_000017.10:g.17127376_17127379dup , CM000679.1:g.17127376_17127379dup GRCh37
NC_000017.9:g.17068101_17068104dup NCBI36
NG_008001.2:g.18125_18128dup , LRG_325:g.18125_18128dup

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.476_479dup MANE Select ENSP00000285071.4:p.Asp160GlufsTer?
ENST00000285071.8:c.476_479dup ENSP00000285071.4:p.Asp160GlufsTer?
ENST00000389169.9:c.476_479dup ENSP00000373821.5:p.Asp160GlufsTer?
ENST00000417064.1:c.317_320dup ENSP00000410410.1:p.Asp107GlufsTer?
ENST00000427497.3:c.148+3926_148+3929dup ENSP00000394249.3:n.148+3926_148+3929dup
ENST00000480316.1:n.442_445dup
NM_144606.5:c.476_479dup NP_653207.1:p.Asp160GlufsTer?
NM_144997.5:c.476_479dup , LRG_325t1:c.476_479dup NP_659434.2:p.Asp160GlufsTer?
XM_011523714.1:c.530_533dup XP_011522016.1:p.Asp178GlufsTer?
XM_011523715.1:c.530_533dup XP_011522017.1:p.Asp178GlufsTer?
XM_011523716.1:c.530_533dup XP_011522018.1:p.Asp178GlufsTer?
XM_011523717.1:c.530_533dup XP_011522019.1:p.Asp178GlufsTer?
XM_011523718.1:c.530_533dup XP_011522020.1:p.Asp178GlufsTer?
XM_011523719.1:c.530_533dup XP_011522021.1:p.Asp178GlufsTer?
XM_011523720.1:c.397-1403_397-1400dup XP_011522022.1:n.397-1403_397-1400dup
XM_011523721.1:c.530_533dup XP_011522023.1:p.Asp178GlufsTer?
XR_934007.1:n.1870_1873dup
NM_001353229.1:c.530_533dup NP_001340158.1:p.Asp178GlufsTer?
NM_001353230.1:c.476_479dup NP_001340159.1:p.Asp160GlufsTer?
NM_001353231.1:c.476_479dup NP_001340160.1:p.Asp160GlufsTer?
NM_144606.6:c.476_479dup NP_653207.1:p.Asp160GlufsTer?
NM_144997.6:c.476_479dup NP_659434.2:p.Asp160GlufsTer?
XM_011523714.3:c.530_533dup XP_011522016.1:p.Asp178GlufsTer?
XM_011523718.3:c.530_533dup XP_011522020.1:p.Asp178GlufsTer?
XM_011523719.3:c.530_533dup XP_011522021.1:p.Asp178GlufsTer?
XM_011523721.3:c.530_533dup XP_011522023.1:p.Asp178GlufsTer?
XM_017024305.2:c.530_533dup XP_016879794.1:p.Asp178GlufsTer?
XM_017024308.1:c.476_479dup XP_016879797.1:p.Asp160GlufsTer?
XM_017024309.2:c.397-1403_397-1400dup XP_016879798.1:n.397-1403_397-1400dup
XM_024450635.1:c.530_533dup XP_024306403.1:p.Asp178GlufsTer?
XR_001752445.2:n.1034_1037dup
NM_144997.7:c.476_479dup MANE Select NP_659434.2:p.Asp160GlufsTer?
NM_001353229.2:c.530_533dup NP_001340158.1:p.Asp178GlufsTer?
NM_001353230.2:c.476_479dup NP_001340159.1:p.Asp160GlufsTer?
NM_001353231.2:c.476_479dup NP_001340160.1:p.Asp160GlufsTer?
NM_144606.7:c.476_479dup NP_653207.1:p.Asp160GlufsTer?