Canonical Allele Identifier: CA3956394
Gene: FIG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 234659
ClinVar RCV Id: RCV000216486
dbSNP Id: rs876661144

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109792644_109792646del , CM000668.2:g.109792644_109792646del GRCh38
NC_000006.11:g.110113847_110113849del , CM000668.1:g.110113847_110113849del GRCh37
NC_000006.10:g.110220540_110220542del NCBI36
NG_007977.1:g.106424_106426del , LRG_241:g.106424_106426del

Transcript Alleles

HGVS Amino-acid change
ENST00000230124.8:c.2439_2441del MANE Select ENSP00000230124.4:p.Glu813del
ENST00000415980.2:c.945_947del ENSP00000405660.2:p.Glu315del
ENST00000419951.2:n.787_789del
ENST00000674532.1:n.5635_5637del
ENST00000674557.1:c.*1732_*1734del ENSP00000501608.1:p.=
ENST00000674569.1:c.*1558_*1560del ENSP00000502769.1:p.=
ENST00000674571.1:c.*1558_*1560del ENSP00000501633.1:p.=
ENST00000674575.1:c.*1558_*1560del ENSP00000502276.1:p.=
ENST00000674641.1:c.2094_2096del ENSP00000501609.1:p.Glu698del
ENST00000674649.1:c.*2132_*2134del ENSP00000501669.1:p.=
ENST00000674657.1:c.*1871_*1873del ENSP00000502314.1:p.=
ENST00000674744.1:c.2433_2435del ENSP00000501661.1:p.Glu811del
ENST00000674778.1:c.*1657_*1659del ENSP00000502742.1:p.=
ENST00000674783.1:c.*1354_*1356del ENSP00000502755.1:p.=
ENST00000674884.1:c.2457_2459del ENSP00000502668.1:p.Glu819del
ENST00000674930.1:c.*1564_*1566del ENSP00000502657.1:p.=
ENST00000674933.1:c.2208_2210del ENSP00000502376.1:p.Glu736del
ENST00000674956.1:c.*1653_*1655del ENSP00000501904.1:p.=
ENST00000675004.1:c.*2391_*2393del ENSP00000501868.1:p.=
ENST00000675009.1:c.*1823_*1825del ENSP00000502098.1:p.=
ENST00000675096.1:c.2232_2234del ENSP00000502116.1:p.Glu744del
ENST00000675122.1:c.*546_*548del ENSP00000501810.1:p.=
ENST00000675153.1:c.*1156_*1158del ENSP00000501682.1:p.=
ENST00000675254.1:n.3898_3900del
ENST00000675272.1:n.6737_6739del
ENST00000675284.1:c.2439_2441del ENSP00000502758.1:p.Glu813del
ENST00000675301.1:n.1096_1098del
ENST00000675311.1:c.*1641_*1643del ENSP00000501961.1:p.=
ENST00000675426.1:c.*1507_*1509del ENSP00000501819.1:p.=
ENST00000675523.1:c.2208_2210del ENSP00000502384.1:p.Glu736del
ENST00000675552.1:c.*4702_*4704del ENSP00000502197.1:p.=
ENST00000675726.1:c.2439_2441del ENSP00000502452.1:p.Glu813del
ENST00000675772.1:c.2439_2441del ENSP00000501678.1:p.Glu813del
ENST00000675831.1:c.2046_2048del ENSP00000502382.1:p.Glu682del
ENST00000675849.1:n.2061_2063del
ENST00000675879.1:n.1284_1286del
ENST00000675954.1:n.3772_3774del
ENST00000675991.1:c.*4266_*4268del ENSP00000502162.1:p.=
ENST00000675994.1:c.*1578_*1580del ENSP00000502419.1:p.=
ENST00000676021.1:c.*1017_*1019del ENSP00000502746.1:p.=
ENST00000676037.1:c.*366_*368del ENSP00000502181.1:p.=
ENST00000676136.1:n.5086_5088del
ENST00000676246.1:n.329_331del
ENST00000676442.1:c.2310_2312del ENSP00000502595.1:p.Glu770del
ENST00000230124.7:c.2439_2441del ENSP00000230124.3:p.Glu813del
NM_014845.5:c.2439_2441del , LRG_241t1:c.2439_2441del NP_055660.1:p.Glu813del
XM_011536281.1:c.2376_2378del XP_011534583.1:p.Glu792del
XM_011536281.3:c.2376_2378del XP_011534583.1:p.Glu792del
XM_017011592.1:c.1890_1892del XP_016867081.1:p.Glu630del
XM_017011593.2:c.1509_1511del XP_016867082.1:p.Glu503del
NM_014845.6:c.2439_2441del MANE Select NP_055660.1:p.Glu813del