Canonical Allele Identifier: CA2825002450

Gene: FLCN

Linked Data

• ClinVar Variation Id: 3229263
• ClinVar RCV Id: RCV004524842

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219087_17219088delinsAT , CM000679.2:g.17219087_17219088delinsAT	GRCh38
NC_000017.10:g.17122401_17122402delinsAT , CM000679.1:g.17122401_17122402delinsAT	GRCh37
NC_000017.9:g.17063126_17063127delinsAT	NCBI36
NG_008001.2:g.23101_23102delinsAT , LRG_325:g.23101_23102delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.993_994delinsAT MANE Select	ENSP00000285071.4:p.Leu332Phe
ENST00000285071.8:c.993_994delinsAT	ENSP00000285071.4:p.Leu332Phe
ENST00000427497.3:c.149-34_149-33delinsAT	ENSP00000394249.3:n.149-34_149-33delinsAT
ENST00000577591.1:n.16_17delinsAT
NM_144997.5:c.993_994delinsAT , LRG_325t1:c.993_994delinsAT	NP_659434.2:p.Leu332Phe
XM_011523714.1:c.1047_1048delinsAT	XP_011522016.1:p.Leu350Phe
XM_011523715.1:c.1047_1048delinsAT	XP_011522017.1:p.Leu350Phe
XM_011523716.1:c.1047_1048delinsAT	XP_011522018.1:p.Leu350Phe
XM_011523717.1:c.1047_1048delinsAT	XP_011522019.1:p.Leu350Phe
XM_011523718.1:c.1047_1048delinsAT	XP_011522020.1:p.Leu350Phe
XM_011523719.1:c.1047_1048delinsAT	XP_011522021.1:p.Leu350Phe
XM_011523720.1:c.771_772delinsAT	XP_011522022.1:p.Leu258Phe
XM_011523721.1:c.1047_1048delinsAT	XP_011522023.1:p.Leu350Phe
XR_934007.1:n.2387_2388delinsAT
NM_001353229.1:c.1047_1048delinsAT	NP_001340158.1:p.Leu350Phe
NM_001353230.1:c.993_994delinsAT	NP_001340159.1:p.Leu332Phe
NM_001353231.1:c.993_994delinsAT	NP_001340160.1:p.Leu332Phe
NM_144997.6:c.993_994delinsAT	NP_659434.2:p.Leu332Phe
XM_011523714.3:c.1047_1048delinsAT	XP_011522016.1:p.Leu350Phe
XM_011523718.3:c.1047_1048delinsAT	XP_011522020.1:p.Leu350Phe
XM_011523719.3:c.1047_1048delinsAT	XP_011522021.1:p.Leu350Phe
XM_011523721.3:c.1047_1048delinsAT	XP_011522023.1:p.Leu350Phe
XM_017024305.2:c.1047_1048delinsAT	XP_016879794.1:p.Leu350Phe
XM_017024308.1:c.993_994delinsAT	XP_016879797.1:p.Leu332Phe
XM_017024309.2:c.771_772delinsAT	XP_016879798.1:p.Leu258Phe
XM_024450635.1:c.1047_1048delinsAT	XP_024306403.1:p.Leu350Phe
XR_001752445.2:n.1551_1552delinsAT
NM_144997.7:c.993_994delinsAT MANE Select	NP_659434.2:p.Leu332Phe
NM_001353229.2:c.1047_1048delinsAT	NP_001340158.1:p.Leu350Phe
NM_001353230.2:c.993_994delinsAT	NP_001340159.1:p.Leu332Phe
NM_001353231.2:c.993_994delinsAT	NP_001340160.1:p.Leu332Phe