Canonical Allele Identifier: CA2636354608

Gene: FLCN

Linked Data

• ClinVar Variation Id: 2855449
• ClinVar RCV Id: RCV003608323
• gnomAD v4: 17-17223961-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17223962del , CM000679.2:g.17223962del	GRCh38
NC_000017.10:g.17127276del , CM000679.1:g.17127276del	GRCh37
NC_000017.9:g.17068001del	NCBI36
NG_008001.2:g.18227del , LRG_325:g.18227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.578del MANE Select	ENSP00000285071.4:p.Val193AlafsTer30
ENST00000285071.8:c.578del	ENSP00000285071.4:p.Val193AlafsTer30
ENST00000389169.9:c.578del	ENSP00000373821.5:p.Val193AlafsTer30
ENST00000417064.1:c.419del	ENSP00000410410.1:p.Val140AlafsTer?
ENST00000427497.3:c.148+4028del	ENSP00000394249.3:n.148+4028del
ENST00000480316.1:n.544del
NM_144606.5:c.578del	NP_653207.1:p.Val193AlafsTer30
NM_144997.5:c.578del , LRG_325t1:c.578del	NP_659434.2:p.Val193AlafsTer30
XM_011523714.1:c.632del	XP_011522016.1:p.Val211AlafsTer30
XM_011523715.1:c.632del	XP_011522017.1:p.Val211AlafsTer30
XM_011523716.1:c.632del	XP_011522018.1:p.Val211AlafsTer30
XM_011523717.1:c.632del	XP_011522019.1:p.Val211AlafsTer30
XM_011523718.1:c.632del	XP_011522020.1:p.Val211AlafsTer30
XM_011523719.1:c.632del	XP_011522021.1:p.Val211AlafsTer30
XM_011523720.1:c.397-1301del	XP_011522022.1:n.397-1301del
XM_011523721.1:c.632del	XP_011522023.1:p.Val211AlafsTer30
XR_934007.1:n.1972del
NM_001353229.1:c.632del	NP_001340158.1:p.Val211AlafsTer30
NM_001353230.1:c.578del	NP_001340159.1:p.Val193AlafsTer30
NM_001353231.1:c.578del	NP_001340160.1:p.Val193AlafsTer30
NM_144606.6:c.578del	NP_653207.1:p.Val193AlafsTer30
NM_144997.6:c.578del	NP_659434.2:p.Val193AlafsTer30
XM_011523714.3:c.632del	XP_011522016.1:p.Val211AlafsTer30
XM_011523718.3:c.632del	XP_011522020.1:p.Val211AlafsTer30
XM_011523719.3:c.632del	XP_011522021.1:p.Val211AlafsTer30
XM_011523721.3:c.632del	XP_011522023.1:p.Val211AlafsTer30
XM_017024305.2:c.632del	XP_016879794.1:p.Val211AlafsTer30
XM_017024308.1:c.578del	XP_016879797.1:p.Val193AlafsTer30
XM_017024309.2:c.397-1301del	XP_016879798.1:n.397-1301del
XM_024450635.1:c.632del	XP_024306403.1:p.Val211AlafsTer30
XR_001752445.2:n.1136del
NM_144997.7:c.578del MANE Select	NP_659434.2:p.Val193AlafsTer30
NM_001353229.2:c.632del	NP_001340158.1:p.Val211AlafsTer30
NM_001353230.2:c.578del	NP_001340159.1:p.Val193AlafsTer30
NM_001353231.2:c.578del	NP_001340160.1:p.Val193AlafsTer30
NM_144606.7:c.578del	NP_653207.1:p.Val193AlafsTer30