Canonical Allele Identifier: CA2695224528

Gene: FLCN MPRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213740_17213750del , CM000679.2:g.17213740_17213750del	GRCh38
NC_000017.10:g.17117054_17117064del , CM000679.1:g.17117054_17117064del	GRCh37
NC_000017.9:g.17057779_17057789del	NCBI36
NG_008001.2:g.28442_28452del , LRG_325:g.28442_28452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1648_1658del (FLCN) MANE Select	ENSP00000285071.4:p.Leu550AspfsTer?
ENST00000285071.8:c.1648_1658del (FLCN)	ENSP00000285071.4:p.Leu550AspfsTer?
ENST00000427497.3:c.*372+1238_*372+1248del	ENSP00000394249.3:n.*372+1238_*372+1248del
ENST00000578209.5:c.562-3750_562-3740del (MPRIP)
NM_144997.5:c.1648_1658del , LRG_325t1:c.1648_1658del (FLCN)	NP_659434.2:p.Leu550AspfsTer?
XM_011523714.1:c.1702_1712del (FLCN)	XP_011522016.1:p.Leu568AspfsTer?
XM_011523715.1:c.1702_1712del (FLCN)	XP_011522017.1:p.Leu568AspfsTer?
XM_011523716.1:c.1702_1712del (FLCN)	XP_011522018.1:p.Leu568AspfsTer?
XM_011523717.1:c.1702_1712del (FLCN)	XP_011522019.1:p.Leu568AspfsTer?
XM_011523718.1:c.1702_1712del (FLCN)	XP_011522020.1:p.Leu568AspfsTer?
XM_011523719.1:c.1592+1238_1592+1248del (FLCN)	XP_011522021.1:n.1592+1238_1592+1248del
XM_011523720.1:c.1426_1436del (FLCN)	XP_011522022.1:p.Leu476AspfsTer?
XM_011523721.1:c.1702_1712del (FLCN)	XP_011522023.1:p.Leu568AspfsTer?
XR_934007.1:n.2918_2928del (FLCN)
NM_001353229.1:c.1702_1712del (FLCN)	NP_001340158.1:p.Leu568AspfsTer?
NM_001353230.1:c.1648_1658del (FLCN)	NP_001340159.1:p.Leu550AspfsTer?
NM_001353231.1:c.1648_1658del (FLCN)	NP_001340160.1:p.Leu550AspfsTer?
NM_144997.6:c.1648_1658del (FLCN)	NP_659434.2:p.Leu550AspfsTer?
XM_011523714.3:c.1702_1712del (FLCN)	XP_011522016.1:p.Leu568AspfsTer?
XM_011523718.3:c.1702_1712del (FLCN)	XP_011522020.1:p.Leu568AspfsTer?
XM_011523719.3:c.1592+1238_1592+1248del (FLCN)	XP_011522021.1:n.1592+1238_1592+1248del
XM_011523721.3:c.1702_1712del (FLCN)	XP_011522023.1:p.Leu568AspfsTer?
XM_017024305.2:c.1702_1712del (FLCN)	XP_016879794.1:p.Leu568AspfsTer?
XM_017024308.1:c.1648_1658del (FLCN)	XP_016879797.1:p.Leu550AspfsTer?
XM_017024309.2:c.1426_1436del (FLCN)	XP_016879798.1:p.Leu476AspfsTer?
XM_024450635.1:c.1702_1712del (FLCN)	XP_024306403.1:p.Leu568AspfsTer?
XR_001752445.2:n.2082_2092del (FLCN)
NM_144997.7:c.1648_1658del (FLCN) MANE Select	NP_659434.2:p.Leu550AspfsTer?
NM_001353229.2:c.1702_1712del (FLCN)	NP_001340158.1:p.Leu568AspfsTer?
NM_001353230.2:c.1648_1658del (FLCN)	NP_001340159.1:p.Leu550AspfsTer?
NM_001353231.2:c.1648_1658del (FLCN)	NP_001340160.1:p.Leu550AspfsTer?