Canonical Allele Identifier: CA625014832

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 2578479
• ClinVar RCV Id: RCV003326255
• dbSNP Id: rs1439151268
• gnomAD v2: 17-17117108-TTC-T
• gnomAD v4: 17-17213794-TTC-T
• MyVariant Identifiers: chr17:g.17117109_17117110del (hg19) ; chr17:g.17213795_17213796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213796_17213797del , CM000679.2:g.17213796_17213797del	GRCh38
NC_000017.10:g.17117110_17117111del , CM000679.1:g.17117110_17117111del	GRCh37
NC_000017.9:g.17057835_17057836del	NCBI36
NG_008001.2:g.28393_28394del , LRG_325:g.28393_28394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1599_1600del (FLCN) MANE Select	ENSP00000285071.4:p.Lys534AlafsTer?
ENST00000285071.8:c.1599_1600del (FLCN)	ENSP00000285071.4:p.Lys534AlafsTer?
ENST00000427497.3:c.*372+1189_*372+1190del	ENSP00000394249.3:n.*372+1189_*372+1190del
ENST00000578209.5:c.562-3694_562-3693del (MPRIP)
NM_144997.5:c.1599_1600del , LRG_325t1:c.1599_1600del (FLCN)	NP_659434.2:p.Lys534AlafsTer?
XM_011523714.1:c.1653_1654del (FLCN)	XP_011522016.1:p.Lys552AlafsTer?
XM_011523715.1:c.1653_1654del (FLCN)	XP_011522017.1:p.Lys552AlafsTer?
XM_011523716.1:c.1653_1654del (FLCN)	XP_011522018.1:p.Lys552AlafsTer?
XM_011523717.1:c.1653_1654del (FLCN)	XP_011522019.1:p.Lys552AlafsTer?
XM_011523718.1:c.1653_1654del (FLCN)	XP_011522020.1:p.Lys552AlafsTer?
XM_011523719.1:c.1592+1189_1592+1190del (FLCN)	XP_011522021.1:n.1592+1189_1592+1190del
XM_011523720.1:c.1377_1378del (FLCN)	XP_011522022.1:p.Lys460AlafsTer?
XM_011523721.1:c.1653_1654del (FLCN)	XP_011522023.1:p.Lys552AlafsTer?
XR_934007.1:n.2869_2870del (FLCN)
NM_001353229.1:c.1653_1654del (FLCN)	NP_001340158.1:p.Lys552AlafsTer?
NM_001353230.1:c.1599_1600del (FLCN)	NP_001340159.1:p.Lys534AlafsTer?
NM_001353231.1:c.1599_1600del (FLCN)	NP_001340160.1:p.Lys534AlafsTer?
NM_144997.6:c.1599_1600del (FLCN)	NP_659434.2:p.Lys534AlafsTer?
XM_011523714.3:c.1653_1654del (FLCN)	XP_011522016.1:p.Lys552AlafsTer?
XM_011523718.3:c.1653_1654del (FLCN)	XP_011522020.1:p.Lys552AlafsTer?
XM_011523719.3:c.1592+1189_1592+1190del (FLCN)	XP_011522021.1:n.1592+1189_1592+1190del
XM_011523721.3:c.1653_1654del (FLCN)	XP_011522023.1:p.Lys552AlafsTer?
XM_017024305.2:c.1653_1654del (FLCN)	XP_016879794.1:p.Lys552AlafsTer?
XM_017024308.1:c.1599_1600del (FLCN)	XP_016879797.1:p.Lys534AlafsTer?
XM_017024309.2:c.1377_1378del (FLCN)	XP_016879798.1:p.Lys460AlafsTer?
XM_024450635.1:c.1653_1654del (FLCN)	XP_024306403.1:p.Lys552AlafsTer?
XR_001752445.2:n.2033_2034del (FLCN)
NM_144997.7:c.1599_1600del (FLCN) MANE Select	NP_659434.2:p.Lys534AlafsTer?
NM_001353229.2:c.1653_1654del (FLCN)	NP_001340158.1:p.Lys552AlafsTer?
NM_001353230.2:c.1599_1600del (FLCN)	NP_001340159.1:p.Lys534AlafsTer?
NM_001353231.2:c.1599_1600del (FLCN)	NP_001340160.1:p.Lys534AlafsTer?