Canonical Allele Identifier: CA569588038

Gene: FIG4

Linked Data

• dbSNP Id: rs1297181044
• gnomAD v2: 6-110113663-T-TAA
• gnomAD v3: 6-109792460-T-TAA
• gnomAD v4: 6-109792460-T-TAA
• MyVariant Identifiers: chr6:g.110113663_110113664insAA (hg19) ; chr6:g.109792460_109792461insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792462_109792463dup , CM000668.2:g.109792462_109792463dup	GRCh38
NC_000006.11:g.110113665_110113666dup , CM000668.1:g.110113665_110113666dup	GRCh37
NC_000006.10:g.110220358_110220359dup	NCBI36
NG_007977.1:g.106242_106243dup , LRG_241:g.106242_106243dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2377-120_2377-119dup MANE Select	ENSP00000230124.4:n.2377-120_2377-119dup
ENST00000415980.2:c.883-120_883-119dup	ENSP00000405660.2:n.883-120_883-119dup
ENST00000419951.2:n.725-120_725-119dup
ENST00000674532.1:n.5573-120_5573-119dup
ENST00000674557.1:c.*1670-120_*1670-119dup	ENSP00000501608.1:n.*1670-120_*1670-119dup
ENST00000674569.1:c.*1496-120_*1496-119dup	ENSP00000502769.1:n.*1496-120_*1496-119dup
ENST00000674571.1:c.*1496-120_*1496-119dup	ENSP00000501633.1:n.*1496-120_*1496-119dup
ENST00000674575.1:c.*1496-120_*1496-119dup	ENSP00000502276.1:n.*1496-120_*1496-119dup
ENST00000674641.1:c.2032-120_2032-119dup	ENSP00000501609.1:n.2032-120_2032-119dup
ENST00000674644.1:c.1447-120_1447-119dup	ENSP00000502201.1:n.1447-120_1447-119dup
ENST00000674649.1:c.*2070-120_*2070-119dup	ENSP00000501669.1:n.*2070-120_*2070-119dup
ENST00000674657.1:c.*1809-120_*1809-119dup	ENSP00000502314.1:n.*1809-120_*1809-119dup
ENST00000674744.1:c.2371-120_2371-119dup	ENSP00000501661.1:n.2371-120_2371-119dup
ENST00000674778.1:c.*1595-120_*1595-119dup	ENSP00000502742.1:n.*1595-120_*1595-119dup
ENST00000674783.1:c.*1292-120_*1292-119dup	ENSP00000502755.1:n.*1292-120_*1292-119dup
ENST00000674884.1:c.2395-120_2395-119dup	ENSP00000502668.1:n.2395-120_2395-119dup
ENST00000674930.1:c.*1502-120_*1502-119dup	ENSP00000502657.1:n.*1502-120_*1502-119dup
ENST00000674933.1:c.2146-120_2146-119dup	ENSP00000502376.1:n.2146-120_2146-119dup
ENST00000674956.1:c.*1591-120_*1591-119dup	ENSP00000501904.1:n.*1591-120_*1591-119dup
ENST00000675004.1:c.*2329-120_*2329-119dup	ENSP00000501868.1:n.*2329-120_*2329-119dup
ENST00000675009.1:c.*1761-120_*1761-119dup	ENSP00000502098.1:n.*1761-120_*1761-119dup
ENST00000675096.1:c.2170-120_2170-119dup	ENSP00000502116.1:n.2170-120_2170-119dup
ENST00000675122.1:c.*484-120_*484-119dup	ENSP00000501810.1:n.*484-120_*484-119dup
ENST00000675153.1:c.*1094-120_*1094-119dup	ENSP00000501682.1:n.*1094-120_*1094-119dup
ENST00000675254.1:n.3716_3717dup
ENST00000675272.1:n.6675-120_6675-119dup
ENST00000675284.1:c.2377-120_2377-119dup	ENSP00000502758.1:n.2377-120_2377-119dup
ENST00000675301.1:n.1034-120_1034-119dup
ENST00000675311.1:c.*1579-120_*1579-119dup	ENSP00000501961.1:n.*1579-120_*1579-119dup
ENST00000675426.1:c.*1445-120_*1445-119dup	ENSP00000501819.1:n.*1445-120_*1445-119dup
ENST00000675523.1:c.2146-120_2146-119dup	ENSP00000502384.1:n.2146-120_2146-119dup
ENST00000675552.1:c.*4640-120_*4640-119dup	ENSP00000502197.1:n.*4640-120_*4640-119dup
ENST00000675726.1:c.2377-120_2377-119dup	ENSP00000502452.1:n.2377-120_2377-119dup
ENST00000675772.1:c.2377-120_2377-119dup	ENSP00000501678.1:n.2377-120_2377-119dup
ENST00000675831.1:c.1984-120_1984-119dup	ENSP00000502382.1:n.1984-120_1984-119dup
ENST00000675849.1:n.1999-120_1999-119dup
ENST00000675879.1:c.1222-120_1222-119dup
ENST00000675887.1:c.*1980-120_*1980-119dup	ENSP00000502123.1:n.*1980-120_*1980-119dup
ENST00000675954.1:n.3710-120_3710-119dup
ENST00000675991.1:c.*4084_*4085dup	ENSP00000502162.1:n.*4084_*4085dup
ENST00000675994.1:c.*1516-120_*1516-119dup	ENSP00000502419.1:n.*1516-120_*1516-119dup
ENST00000676021.1:c.*955-120_*955-119dup	ENSP00000502746.1:n.*955-120_*955-119dup
ENST00000676037.1:c.*304-120_*304-119dup	ENSP00000502181.1:n.*304-120_*304-119dup
ENST00000676136.1:n.5024-120_5024-119dup
ENST00000676246.1:n.267-120_267-119dup
ENST00000676442.1:c.2248-120_2248-119dup	ENSP00000502595.1:n.2248-120_2248-119dup
ENST00000230124.7:c.2377-120_2377-119dup	ENSP00000230124.3:n.2377-120_2377-119dup
NM_014845.5:c.2377-120_2377-119dup , LRG_241t1:c.2377-120_2377-119dup	NP_055660.1:n.2377-120_2377-119dup
XM_011536281.1:c.2314-120_2314-119dup	XP_011534583.1:n.2314-120_2314-119dup
XM_011536281.3:c.2314-120_2314-119dup	XP_011534583.1:n.2314-120_2314-119dup
XM_017011592.1:c.1828-120_1828-119dup	XP_016867081.1:n.1828-120_1828-119dup
XM_017011593.2:c.1447-120_1447-119dup	XP_016867082.1:n.1447-120_1447-119dup
NM_014845.6:c.2377-120_2377-119dup MANE Select	NP_055660.1:n.2377-120_2377-119dup