Canonical Allele Identifier: CA915949603

Gene: FLCN

Linked Data

• ClinVar Variation Id: 643432
• ClinVar RCV Id: RCV000797126 ; RCV001269731 ; RCV002370091
• dbSNP Id: rs1597592246

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219192_17219193del , CM000679.2:g.17219192_17219193del	GRCh38
NC_000017.10:g.17122506_17122507del , CM000679.1:g.17122506_17122507del	GRCh37
NC_000017.9:g.17063231_17063232del	NCBI36
NG_008001.2:g.22997_22998del , LRG_325:g.22997_22998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.889_890del MANE Select	ENSP00000285071.4:p.Glu297LysfsTer6
ENST00000285071.8:c.889_890del	ENSP00000285071.4:p.Glu297LysfsTer6
ENST00000427497.3:c.149-138_149-137del	ENSP00000394249.3:n.149-138_149-137del
NM_144997.5:c.889_890del , LRG_325t1:c.889_890del	NP_659434.2:p.Glu297LysfsTer6
XM_011523714.1:c.943_944del	XP_011522016.1:p.Glu315LysfsTer6
XM_011523715.1:c.943_944del	XP_011522017.1:p.Glu315LysfsTer6
XM_011523716.1:c.943_944del	XP_011522018.1:p.Glu315LysfsTer6
XM_011523717.1:c.943_944del	XP_011522019.1:p.Glu315LysfsTer6
XM_011523718.1:c.943_944del	XP_011522020.1:p.Glu315LysfsTer6
XM_011523719.1:c.943_944del	XP_011522021.1:p.Glu315LysfsTer6
XM_011523720.1:c.667_668del	XP_011522022.1:p.Glu223LysfsTer6
XM_011523721.1:c.943_944del	XP_011522023.1:p.Glu315LysfsTer6
XR_934007.1:n.2283_2284del
NM_001353229.1:c.943_944del	NP_001340158.1:p.Glu315LysfsTer6
NM_001353230.1:c.889_890del	NP_001340159.1:p.Glu297LysfsTer6
NM_001353231.1:c.889_890del	NP_001340160.1:p.Glu297LysfsTer6
NM_144997.6:c.889_890del	NP_659434.2:p.Glu297LysfsTer6
XM_011523714.3:c.943_944del	XP_011522016.1:p.Glu315LysfsTer6
XM_011523718.3:c.943_944del	XP_011522020.1:p.Glu315LysfsTer6
XM_011523719.3:c.943_944del	XP_011522021.1:p.Glu315LysfsTer6
XM_011523721.3:c.943_944del	XP_011522023.1:p.Glu315LysfsTer6
XM_017024305.2:c.943_944del	XP_016879794.1:p.Glu315LysfsTer6
XM_017024308.1:c.889_890del	XP_016879797.1:p.Glu297LysfsTer6
XM_017024309.2:c.667_668del	XP_016879798.1:p.Glu223LysfsTer6
XM_024450635.1:c.943_944del	XP_024306403.1:p.Glu315LysfsTer6
XR_001752445.2:n.1447_1448del
NM_144997.7:c.889_890del MANE Select	NP_659434.2:p.Glu297LysfsTer6
NM_001353229.2:c.943_944del	NP_001340158.1:p.Glu315LysfsTer6
NM_001353230.2:c.889_890del	NP_001340159.1:p.Glu297LysfsTer6
NM_001353231.2:c.889_890del	NP_001340160.1:p.Glu297LysfsTer6