Canonical Allele Identifier: CA1093073576
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109792576_109792577insTTTT , CM000668.2:g.109792576_109792577insTTTT GRCh38
NC_000006.11:g.110113779_110113780insTTTT , CM000668.1:g.110113779_110113780insTTTT GRCh37
NC_000006.10:g.110220472_110220473insTTTT NCBI36
NG_007977.1:g.106356_106357insTTTT , LRG_241:g.106356_106357insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000230124.8:c.2377-6_2377-5insTTTT MANE Select ENSP00000230124.4:n.2377-6_2377-5insTTTT
ENST00000415980.2:c.883-6_883-5insTTTT ENSP00000405660.2:n.883-6_883-5insTTTT
ENST00000419951.2:n.725-6_725-5insTTTT
ENST00000674532.1:n.5573-6_5573-5insTTTT
ENST00000674557.1:c.*1670-6_*1670-5insTTTT ENSP00000501608.1:n.*1670-6_*1670-5insTTTT
ENST00000674569.1:c.*1496-6_*1496-5insTTTT ENSP00000502769.1:n.*1496-6_*1496-5insTTTT
ENST00000674571.1:c.*1496-6_*1496-5insTTTT ENSP00000501633.1:n.*1496-6_*1496-5insTTTT
ENST00000674575.1:c.*1496-6_*1496-5insTTTT ENSP00000502276.1:n.*1496-6_*1496-5insTTTT
ENST00000674641.1:c.2032-6_2032-5insTTTT ENSP00000501609.1:n.2032-6_2032-5insTTTT
ENST00000674644.1:c.1447-6_1447-5insTTTT ENSP00000502201.1:n.1447-6_1447-5insTTTT
ENST00000674649.1:c.*2070-6_*2070-5insTTTT ENSP00000501669.1:n.*2070-6_*2070-5insTTTT
ENST00000674657.1:c.*1809-6_*1809-5insTTTT ENSP00000502314.1:n.*1809-6_*1809-5insTTTT
ENST00000674744.1:c.2371-6_2371-5insTTTT ENSP00000501661.1:n.2371-6_2371-5insTTTT
ENST00000674778.1:c.*1595-6_*1595-5insTTTT ENSP00000502742.1:n.*1595-6_*1595-5insTTTT
ENST00000674783.1:c.*1292-6_*1292-5insTTTT ENSP00000502755.1:n.*1292-6_*1292-5insTTTT
ENST00000674884.1:c.2395-6_2395-5insTTTT ENSP00000502668.1:n.2395-6_2395-5insTTTT
ENST00000674930.1:c.*1502-6_*1502-5insTTTT ENSP00000502657.1:n.*1502-6_*1502-5insTTTT
ENST00000674933.1:c.2146-6_2146-5insTTTT ENSP00000502376.1:n.2146-6_2146-5insTTTT
ENST00000674956.1:c.*1591-6_*1591-5insTTTT ENSP00000501904.1:n.*1591-6_*1591-5insTTTT
ENST00000675004.1:c.*2329-6_*2329-5insTTTT ENSP00000501868.1:n.*2329-6_*2329-5insTTTT
ENST00000675009.1:c.*1761-6_*1761-5insTTTT ENSP00000502098.1:n.*1761-6_*1761-5insTTTT
ENST00000675096.1:c.2170-6_2170-5insTTTT ENSP00000502116.1:n.2170-6_2170-5insTTTT
ENST00000675122.1:c.*484-6_*484-5insTTTT ENSP00000501810.1:n.*484-6_*484-5insTTTT
ENST00000675153.1:c.*1094-6_*1094-5insTTTT ENSP00000501682.1:n.*1094-6_*1094-5insTTTT
ENST00000675254.1:n.3830_3831insTTTT
ENST00000675272.1:n.6675-6_6675-5insTTTT
ENST00000675284.1:c.2377-6_2377-5insTTTT ENSP00000502758.1:n.2377-6_2377-5insTTTT
ENST00000675301.1:n.1034-6_1034-5insTTTT
ENST00000675311.1:c.*1579-6_*1579-5insTTTT ENSP00000501961.1:n.*1579-6_*1579-5insTTTT
ENST00000675426.1:c.*1445-6_*1445-5insTTTT ENSP00000501819.1:n.*1445-6_*1445-5insTTTT
ENST00000675523.1:c.2146-6_2146-5insTTTT ENSP00000502384.1:n.2146-6_2146-5insTTTT
ENST00000675552.1:c.*4640-6_*4640-5insTTTT ENSP00000502197.1:n.*4640-6_*4640-5insTTTT
ENST00000675726.1:c.2377-6_2377-5insTTTT ENSP00000502452.1:n.2377-6_2377-5insTTTT
ENST00000675772.1:c.2377-6_2377-5insTTTT ENSP00000501678.1:n.2377-6_2377-5insTTTT
ENST00000675831.1:c.1984-6_1984-5insTTTT ENSP00000502382.1:n.1984-6_1984-5insTTTT
ENST00000675849.1:n.1999-6_1999-5insTTTT
ENST00000675879.1:c.1222-6_1222-5insTTTT
ENST00000675887.1:c.*1980-6_*1980-5insTTTT ENSP00000502123.1:n.*1980-6_*1980-5insTTTT
ENST00000675954.1:n.3710-6_3710-5insTTTT
ENST00000675991.1:c.*4198_*4199insTTTT ENSP00000502162.1:n.*4198_*4199insTTTT
ENST00000675994.1:c.*1516-6_*1516-5insTTTT ENSP00000502419.1:n.*1516-6_*1516-5insTTTT
ENST00000676021.1:c.*955-6_*955-5insTTTT ENSP00000502746.1:n.*955-6_*955-5insTTTT
ENST00000676037.1:c.*304-6_*304-5insTTTT ENSP00000502181.1:n.*304-6_*304-5insTTTT
ENST00000676136.1:n.5024-6_5024-5insTTTT
ENST00000676246.1:n.267-6_267-5insTTTT
ENST00000676442.1:c.2248-6_2248-5insTTTT ENSP00000502595.1:n.2248-6_2248-5insTTTT
ENST00000230124.7:c.2377-6_2377-5insTTTT ENSP00000230124.3:n.2377-6_2377-5insTTTT
NM_014845.5:c.2377-6_2377-5insTTTT , LRG_241t1:c.2377-6_2377-5insTTTT NP_055660.1:n.2377-6_2377-5insTTTT
XM_011536281.1:c.2314-6_2314-5insTTTT XP_011534583.1:n.2314-6_2314-5insTTTT
XM_011536281.3:c.2314-6_2314-5insTTTT XP_011534583.1:n.2314-6_2314-5insTTTT
XM_017011592.1:c.1828-6_1828-5insTTTT XP_016867081.1:n.1828-6_1828-5insTTTT
XM_017011593.2:c.1447-6_1447-5insTTTT XP_016867082.1:n.1447-6_1447-5insTTTT
NM_014845.6:c.2377-6_2377-5insTTTT MANE Select NP_055660.1:n.2377-6_2377-5insTTTT