Canonical Allele Identifier: CA2581463432

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213655_17213856del , CM000679.2:g.17213655_17213856del GRCh38
NC_000017.10:g.17116969_17117170del , CM000679.1:g.17116969_17117170del GRCh37
NC_000017.9:g.17057694_17057895del NCBI36
NG_008001.2:g.28334_28535del , LRG_325:g.28334_28535del

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1540_*1del (FLCN) MANE Select ENSP00000285071.4:n.[c.1540_*1del;Lys514ProfsTer7]
ENST00000285071.8:c.1540_*1del (FLCN) ENSP00000285071.4:n.[c.1540_*1del;Lys514ProfsTer7]
ENST00000427497.3:c.*372+1130_*372+1331del ENSP00000394249.3:n.*372+1130_*372+1331del
ENST00000578209.5:c.562-3835_562-3634del (MPRIP)
NM_144997.5:c.1540_*1del , LRG_325t1:c.1540_*1del (FLCN) NP_659434.2:n.[c.1540_*1del;Lys514ProfsTer7]
XM_011523714.1:c.1594_*1del (FLCN) XP_011522016.1:n.[c.1594_*1del;Lys532ProfsTer7]
XM_011523715.1:c.1594_*1del (FLCN) XP_011522017.1:n.[c.1594_*1del;Lys532ProfsTer7]
XM_011523716.1:c.1594_*1del (FLCN) XP_011522018.1:n.[c.1594_*1del;Lys532ProfsTer7]
XM_011523717.1:c.1594_*1del (FLCN) XP_011522019.1:n.[c.1594_*1del;Lys532ProfsTer7]
XM_011523718.1:c.1594_*1del (FLCN) XP_011522020.1:n.[c.1594_*1del;Lys532ProfsTer7]
XM_011523719.1:c.1592+1130_1592+1331del (FLCN) XP_011522021.1:n.1592+1130_1592+1331del
XM_011523720.1:c.1318_*1del (FLCN) XP_011522022.1:n.[c.1318_*1del;Lys440ProfsTer7]
XM_011523721.1:c.1594_*1del (FLCN) XP_011522023.1:n.[c.1594_*1del;Lys532ProfsTer7]
NM_001353229.1:c.1594_*1del (FLCN) NP_001340158.1:n.[c.1594_*1del;Lys532ProfsTer7]
NM_001353230.1:c.1540_*1del (FLCN) NP_001340159.1:n.[c.1540_*1del;Lys514ProfsTer7]
NM_001353231.1:c.1540_*1del (FLCN) NP_001340160.1:n.[c.1540_*1del;Lys514ProfsTer7]
NM_144997.6:c.1540_*1del (FLCN) NP_659434.2:n.[c.1540_*1del;Lys514ProfsTer7]
XM_011523719.3:c.1592+1130_1592+1331del (FLCN) XP_011522021.1:n.1592+1130_1592+1331del
XM_017024309.2:c.1318_*1del (FLCN) XP_016879798.1:n.[c.1318_*1del;Lys440ProfsTer7]
XR_001752445.2:n.1974_2175del (FLCN)
NM_144997.7:c.1540_*1del (FLCN) MANE Select NP_659434.2:n.[c.1540_*1del;Lys514ProfsTer7]
NM_001353229.2:c.1594_*1del (FLCN) NP_001340158.1:n.[c.1594_*1del;Lys532ProfsTer7]
NM_001353230.2:c.1540_*1del (FLCN) NP_001340159.1:n.[c.1540_*1del;Lys514ProfsTer7]
NM_001353231.2:c.1540_*1del (FLCN) NP_001340160.1:n.[c.1540_*1del;Lys514ProfsTer7]