Canonical Allele Identifier: CA891842299

Gene: FLCN MPRIP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213799_17213806del , CM000679.2:g.17213799_17213806del	GRCh38
NC_000017.10:g.17117113_17117120del , CM000679.1:g.17117113_17117120del	GRCh37
NC_000017.9:g.17057838_17057845del	NCBI36
NG_008001.2:g.28383_28390del , LRG_325:g.28383_28390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1589_1596del (FLCN) MANE Select	ENSP00000285071.4:p.Glu530AlafsTer?
ENST00000285071.8:c.1589_1596del (FLCN)	ENSP00000285071.4:p.Glu530AlafsTer?
ENST00000427497.3:c.*372+1179_*372+1186del	ENSP00000394249.3:n.*372+1179_*372+1186del
ENST00000578209.5:c.562-3691_562-3684del (MPRIP)
NM_144997.5:c.1589_1596del , LRG_325t1:c.1589_1596del (FLCN)	NP_659434.2:p.Glu530AlafsTer?
XM_011523714.1:c.1643_1650del (FLCN)	XP_011522016.1:p.Glu548AlafsTer?
XM_011523715.1:c.1643_1650del (FLCN)	XP_011522017.1:p.Glu548AlafsTer?
XM_011523716.1:c.1643_1650del (FLCN)	XP_011522018.1:p.Glu548AlafsTer?
XM_011523717.1:c.1643_1650del (FLCN)	XP_011522019.1:p.Glu548AlafsTer?
XM_011523718.1:c.1643_1650del (FLCN)	XP_011522020.1:p.Glu548AlafsTer?
XM_011523719.1:c.1592+1179_1592+1186del (FLCN)	XP_011522021.1:n.1592+1179_1592+1186del
XM_011523720.1:c.1367_1374del (FLCN)	XP_011522022.1:p.Glu456AlafsTer?
XM_011523721.1:c.1643_1650del (FLCN)	XP_011522023.1:p.Glu548AlafsTer?
XR_934007.1:n.2859_2866del (FLCN)
NM_001353229.1:c.1643_1650del (FLCN)	NP_001340158.1:p.Glu548AlafsTer?
NM_001353230.1:c.1589_1596del (FLCN)	NP_001340159.1:p.Glu530AlafsTer?
NM_001353231.1:c.1589_1596del (FLCN)	NP_001340160.1:p.Glu530AlafsTer?
NM_144997.6:c.1589_1596del (FLCN)	NP_659434.2:p.Glu530AlafsTer?
XM_011523714.3:c.1643_1650del (FLCN)	XP_011522016.1:p.Glu548AlafsTer?
XM_011523718.3:c.1643_1650del (FLCN)	XP_011522020.1:p.Glu548AlafsTer?
XM_011523719.3:c.1592+1179_1592+1186del (FLCN)	XP_011522021.1:n.1592+1179_1592+1186del
XM_011523721.3:c.1643_1650del (FLCN)	XP_011522023.1:p.Glu548AlafsTer?
XM_017024305.2:c.1643_1650del (FLCN)	XP_016879794.1:p.Glu548AlafsTer?
XM_017024308.1:c.1589_1596del (FLCN)	XP_016879797.1:p.Glu530AlafsTer?
XM_017024309.2:c.1367_1374del (FLCN)	XP_016879798.1:p.Glu456AlafsTer?
XM_024450635.1:c.1643_1650del (FLCN)	XP_024306403.1:p.Glu548AlafsTer?
XR_001752445.2:n.2023_2030del (FLCN)
NM_144997.7:c.1589_1596del (FLCN) MANE Select	NP_659434.2:p.Glu530AlafsTer?
NM_001353229.2:c.1643_1650del (FLCN)	NP_001340158.1:p.Glu548AlafsTer?
NM_001353230.2:c.1589_1596del (FLCN)	NP_001340159.1:p.Glu530AlafsTer?
NM_001353231.2:c.1589_1596del (FLCN)	NP_001340160.1:p.Glu530AlafsTer?