Canonical Allele Identifier: CA2679972405

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792572-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792572_109792573insTA , CM000668.2:g.109792572_109792573insTA	GRCh38
NC_000006.11:g.110113775_110113776insTA , CM000668.1:g.110113775_110113776insTA	GRCh37
NC_000006.10:g.110220468_110220469insTA	NCBI36
NG_007977.1:g.106352_106353insTA , LRG_241:g.106352_106353insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2377-10_2377-9insTA MANE Select	ENSP00000230124.4:n.2377-10_2377-9insTA
ENST00000415980.2:c.883-10_883-9insTA	ENSP00000405660.2:n.883-10_883-9insTA
ENST00000419951.2:n.725-10_725-9insTA
ENST00000674532.1:n.5573-10_5573-9insTA
ENST00000674557.1:c.*1670-10_*1670-9insTA	ENSP00000501608.1:n.*1670-10_*1670-9insTA
ENST00000674569.1:c.*1496-10_*1496-9insTA	ENSP00000502769.1:n.*1496-10_*1496-9insTA
ENST00000674571.1:c.*1496-10_*1496-9insTA	ENSP00000501633.1:n.*1496-10_*1496-9insTA
ENST00000674575.1:c.*1496-10_*1496-9insTA	ENSP00000502276.1:n.*1496-10_*1496-9insTA
ENST00000674641.1:c.2032-10_2032-9insTA	ENSP00000501609.1:n.2032-10_2032-9insTA
ENST00000674644.1:c.1447-10_1447-9insTA	ENSP00000502201.1:n.1447-10_1447-9insTA
ENST00000674649.1:c.*2070-10_*2070-9insTA	ENSP00000501669.1:n.*2070-10_*2070-9insTA
ENST00000674657.1:c.*1809-10_*1809-9insTA	ENSP00000502314.1:n.*1809-10_*1809-9insTA
ENST00000674744.1:c.2371-10_2371-9insTA	ENSP00000501661.1:n.2371-10_2371-9insTA
ENST00000674778.1:c.*1595-10_*1595-9insTA	ENSP00000502742.1:n.*1595-10_*1595-9insTA
ENST00000674783.1:c.*1292-10_*1292-9insTA	ENSP00000502755.1:n.*1292-10_*1292-9insTA
ENST00000674884.1:c.2395-10_2395-9insTA	ENSP00000502668.1:n.2395-10_2395-9insTA
ENST00000674930.1:c.*1502-10_*1502-9insTA	ENSP00000502657.1:n.*1502-10_*1502-9insTA
ENST00000674933.1:c.2146-10_2146-9insTA	ENSP00000502376.1:n.2146-10_2146-9insTA
ENST00000674956.1:c.*1591-10_*1591-9insTA	ENSP00000501904.1:n.*1591-10_*1591-9insTA
ENST00000675004.1:c.*2329-10_*2329-9insTA	ENSP00000501868.1:n.*2329-10_*2329-9insTA
ENST00000675009.1:c.*1761-10_*1761-9insTA	ENSP00000502098.1:n.*1761-10_*1761-9insTA
ENST00000675096.1:c.2170-10_2170-9insTA	ENSP00000502116.1:n.2170-10_2170-9insTA
ENST00000675122.1:c.*484-10_*484-9insTA	ENSP00000501810.1:n.*484-10_*484-9insTA
ENST00000675153.1:c.*1094-10_*1094-9insTA	ENSP00000501682.1:n.*1094-10_*1094-9insTA
ENST00000675254.1:n.3826_3827insTA
ENST00000675272.1:n.6675-10_6675-9insTA
ENST00000675284.1:c.2377-10_2377-9insTA	ENSP00000502758.1:n.2377-10_2377-9insTA
ENST00000675301.1:n.1034-10_1034-9insTA
ENST00000675311.1:c.*1579-10_*1579-9insTA	ENSP00000501961.1:n.*1579-10_*1579-9insTA
ENST00000675426.1:c.*1445-10_*1445-9insTA	ENSP00000501819.1:n.*1445-10_*1445-9insTA
ENST00000675523.1:c.2146-10_2146-9insTA	ENSP00000502384.1:n.2146-10_2146-9insTA
ENST00000675552.1:c.*4640-10_*4640-9insTA	ENSP00000502197.1:n.*4640-10_*4640-9insTA
ENST00000675726.1:c.2377-10_2377-9insTA	ENSP00000502452.1:n.2377-10_2377-9insTA
ENST00000675772.1:c.2377-10_2377-9insTA	ENSP00000501678.1:n.2377-10_2377-9insTA
ENST00000675831.1:c.1984-10_1984-9insTA	ENSP00000502382.1:n.1984-10_1984-9insTA
ENST00000675849.1:n.1999-10_1999-9insTA
ENST00000675879.1:c.1222-10_1222-9insTA
ENST00000675887.1:c.*1980-10_*1980-9insTA	ENSP00000502123.1:n.*1980-10_*1980-9insTA
ENST00000675954.1:n.3710-10_3710-9insTA
ENST00000675991.1:c.*4194_*4195insTA	ENSP00000502162.1:n.*4194_*4195insTA
ENST00000675994.1:c.*1516-10_*1516-9insTA	ENSP00000502419.1:n.*1516-10_*1516-9insTA
ENST00000676021.1:c.*955-10_*955-9insTA	ENSP00000502746.1:n.*955-10_*955-9insTA
ENST00000676037.1:c.*304-10_*304-9insTA	ENSP00000502181.1:n.*304-10_*304-9insTA
ENST00000676136.1:n.5024-10_5024-9insTA
ENST00000676246.1:n.267-10_267-9insTA
ENST00000676442.1:c.2248-10_2248-9insTA	ENSP00000502595.1:n.2248-10_2248-9insTA
ENST00000230124.7:c.2377-10_2377-9insTA	ENSP00000230124.3:n.2377-10_2377-9insTA
NM_014845.5:c.2377-10_2377-9insTA , LRG_241t1:c.2377-10_2377-9insTA	NP_055660.1:n.2377-10_2377-9insTA
XM_011536281.1:c.2314-10_2314-9insTA	XP_011534583.1:n.2314-10_2314-9insTA
XM_011536281.3:c.2314-10_2314-9insTA	XP_011534583.1:n.2314-10_2314-9insTA
XM_017011592.1:c.1828-10_1828-9insTA	XP_016867081.1:n.1828-10_1828-9insTA
XM_017011593.2:c.1447-10_1447-9insTA	XP_016867082.1:n.1447-10_1447-9insTA
NM_014845.6:c.2377-10_2377-9insTA MANE Select	NP_055660.1:n.2377-10_2377-9insTA