Canonical Allele Identifier: CA2580092613

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1727005
• ClinVar RCV Id: RCV002308476

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219151_17219152dup , CM000679.2:g.17219151_17219152dup	GRCh38
NC_000017.10:g.17122465_17122466dup , CM000679.1:g.17122465_17122466dup	GRCh37
NC_000017.9:g.17063190_17063191dup	NCBI36
NG_008001.2:g.23039_23040dup , LRG_325:g.23039_23040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.931_932dup MANE Select	ENSP00000285071.4:p.Val312LeufsTer12
ENST00000285071.8:c.931_932dup	ENSP00000285071.4:p.Val312LeufsTer12
ENST00000427497.3:c.149-96_149-95dup	ENSP00000394249.3:n.149-96_149-95dup
NM_144997.5:c.931_932dup , LRG_325t1:c.931_932dup	NP_659434.2:p.Val312LeufsTer12
XM_011523714.1:c.985_986dup	XP_011522016.1:p.Val330LeufsTer12
XM_011523715.1:c.985_986dup	XP_011522017.1:p.Val330LeufsTer12
XM_011523716.1:c.985_986dup	XP_011522018.1:p.Val330LeufsTer12
XM_011523717.1:c.985_986dup	XP_011522019.1:p.Val330LeufsTer12
XM_011523718.1:c.985_986dup	XP_011522020.1:p.Val330LeufsTer12
XM_011523719.1:c.985_986dup	XP_011522021.1:p.Val330LeufsTer12
XM_011523720.1:c.709_710dup	XP_011522022.1:p.Val238LeufsTer12
XM_011523721.1:c.985_986dup	XP_011522023.1:p.Val330LeufsTer12
XR_934007.1:n.2325_2326dup
NM_001353229.1:c.985_986dup	NP_001340158.1:p.Val330LeufsTer12
NM_001353230.1:c.931_932dup	NP_001340159.1:p.Val312LeufsTer12
NM_001353231.1:c.931_932dup	NP_001340160.1:p.Val312LeufsTer12
NM_144997.6:c.931_932dup	NP_659434.2:p.Val312LeufsTer12
XM_011523714.3:c.985_986dup	XP_011522016.1:p.Val330LeufsTer12
XM_011523718.3:c.985_986dup	XP_011522020.1:p.Val330LeufsTer12
XM_011523719.3:c.985_986dup	XP_011522021.1:p.Val330LeufsTer12
XM_011523721.3:c.985_986dup	XP_011522023.1:p.Val330LeufsTer12
XM_017024305.2:c.985_986dup	XP_016879794.1:p.Val330LeufsTer12
XM_017024308.1:c.931_932dup	XP_016879797.1:p.Val312LeufsTer12
XM_017024309.2:c.709_710dup	XP_016879798.1:p.Val238LeufsTer12
XM_024450635.1:c.985_986dup	XP_024306403.1:p.Val330LeufsTer12
XR_001752445.2:n.1489_1490dup
NM_144997.7:c.931_932dup MANE Select	NP_659434.2:p.Val312LeufsTer12
NM_001353229.2:c.985_986dup	NP_001340158.1:p.Val330LeufsTer12
NM_001353230.2:c.931_932dup	NP_001340159.1:p.Val312LeufsTer12
NM_001353231.2:c.931_932dup	NP_001340160.1:p.Val312LeufsTer12