Canonical Allele Identifier: CA3956379

Gene: FIG4

Linked Data

• ClinVar Variation Id: 916999
• ClinVar RCV Id: RCV001173286
• dbSNP Id: rs557926044
• ExAC: 6:110113764 T / TTC
• gnomAD v2: 6-110113764-T-TTC
• gnomAD v3: 6-109792561-T-TTC
• gnomAD v4: 6-109792561-T-TTC
• MyVariant Identifiers: chr6:g.110113764_110113765insTC (hg19) ; chr6:g.109792561_109792562insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792562_109792563insCT , CM000668.2:g.109792562_109792563insCT	GRCh38
NC_000006.11:g.110113765_110113766insCT , CM000668.1:g.110113765_110113766insCT	GRCh37
NC_000006.10:g.110220458_110220459insCT	NCBI36
NG_007977.1:g.106342_106343insCT , LRG_241:g.106342_106343insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2377-20_2377-19insCT MANE Select	ENSP00000230124.4:n.2377-20_2377-19insCT
ENST00000415980.2:c.883-20_883-19insCT	ENSP00000405660.2:n.883-20_883-19insCT
ENST00000419951.2:n.725-20_725-19insCT
ENST00000674532.1:n.5573-20_5573-19insCT
ENST00000674557.1:c.*1670-20_*1670-19insCT	ENSP00000501608.1:n.*1670-20_*1670-19insCT
ENST00000674569.1:c.*1496-20_*1496-19insCT	ENSP00000502769.1:n.*1496-20_*1496-19insCT
ENST00000674571.1:c.*1496-20_*1496-19insCT	ENSP00000501633.1:n.*1496-20_*1496-19insCT
ENST00000674575.1:c.*1496-20_*1496-19insCT	ENSP00000502276.1:n.*1496-20_*1496-19insCT
ENST00000674641.1:c.2032-20_2032-19insCT	ENSP00000501609.1:n.2032-20_2032-19insCT
ENST00000674644.1:c.1447-20_1447-19insCT	ENSP00000502201.1:n.1447-20_1447-19insCT
ENST00000674649.1:c.*2070-20_*2070-19insCT	ENSP00000501669.1:n.*2070-20_*2070-19insCT
ENST00000674657.1:c.*1809-20_*1809-19insCT	ENSP00000502314.1:n.*1809-20_*1809-19insCT
ENST00000674744.1:c.2371-20_2371-19insCT	ENSP00000501661.1:n.2371-20_2371-19insCT
ENST00000674778.1:c.*1595-20_*1595-19insCT	ENSP00000502742.1:n.*1595-20_*1595-19insCT
ENST00000674783.1:c.*1292-20_*1292-19insCT	ENSP00000502755.1:n.*1292-20_*1292-19insCT
ENST00000674884.1:c.2395-20_2395-19insCT	ENSP00000502668.1:n.2395-20_2395-19insCT
ENST00000674930.1:c.*1502-20_*1502-19insCT	ENSP00000502657.1:n.*1502-20_*1502-19insCT
ENST00000674933.1:c.2146-20_2146-19insCT	ENSP00000502376.1:n.2146-20_2146-19insCT
ENST00000674956.1:c.*1591-20_*1591-19insCT	ENSP00000501904.1:n.*1591-20_*1591-19insCT
ENST00000675004.1:c.*2329-20_*2329-19insCT	ENSP00000501868.1:n.*2329-20_*2329-19insCT
ENST00000675009.1:c.*1761-20_*1761-19insCT	ENSP00000502098.1:n.*1761-20_*1761-19insCT
ENST00000675096.1:c.2170-20_2170-19insCT	ENSP00000502116.1:n.2170-20_2170-19insCT
ENST00000675122.1:c.*484-20_*484-19insCT	ENSP00000501810.1:n.*484-20_*484-19insCT
ENST00000675153.1:c.*1094-20_*1094-19insCT	ENSP00000501682.1:n.*1094-20_*1094-19insCT
ENST00000675254.1:n.3816_3817insCT
ENST00000675272.1:n.6675-20_6675-19insCT
ENST00000675284.1:c.2377-20_2377-19insCT	ENSP00000502758.1:n.2377-20_2377-19insCT
ENST00000675301.1:n.1034-20_1034-19insCT
ENST00000675311.1:c.*1579-20_*1579-19insCT	ENSP00000501961.1:n.*1579-20_*1579-19insCT
ENST00000675426.1:c.*1445-20_*1445-19insCT	ENSP00000501819.1:n.*1445-20_*1445-19insCT
ENST00000675523.1:c.2146-20_2146-19insCT	ENSP00000502384.1:n.2146-20_2146-19insCT
ENST00000675552.1:c.*4640-20_*4640-19insCT	ENSP00000502197.1:n.*4640-20_*4640-19insCT
ENST00000675726.1:c.2377-20_2377-19insCT	ENSP00000502452.1:n.2377-20_2377-19insCT
ENST00000675772.1:c.2377-20_2377-19insCT	ENSP00000501678.1:n.2377-20_2377-19insCT
ENST00000675831.1:c.1984-20_1984-19insCT	ENSP00000502382.1:n.1984-20_1984-19insCT
ENST00000675849.1:n.1999-20_1999-19insCT
ENST00000675879.1:c.1222-20_1222-19insCT
ENST00000675887.1:c.*1980-20_*1980-19insCT	ENSP00000502123.1:n.*1980-20_*1980-19insCT
ENST00000675954.1:n.3710-20_3710-19insCT
ENST00000675991.1:c.*4184_*4185insCT	ENSP00000502162.1:n.*4184_*4185insCT
ENST00000675994.1:c.*1516-20_*1516-19insCT	ENSP00000502419.1:n.*1516-20_*1516-19insCT
ENST00000676021.1:c.*955-20_*955-19insCT	ENSP00000502746.1:n.*955-20_*955-19insCT
ENST00000676037.1:c.*304-20_*304-19insCT	ENSP00000502181.1:n.*304-20_*304-19insCT
ENST00000676136.1:n.5024-20_5024-19insCT
ENST00000676246.1:n.267-20_267-19insCT
ENST00000676442.1:c.2248-20_2248-19insCT	ENSP00000502595.1:n.2248-20_2248-19insCT
ENST00000230124.7:c.2377-20_2377-19insCT	ENSP00000230124.3:n.2377-20_2377-19insCT
NM_014845.5:c.2377-20_2377-19insCT , LRG_241t1:c.2377-20_2377-19insCT	NP_055660.1:n.2377-20_2377-19insCT
XM_011536281.1:c.2314-20_2314-19insCT	XP_011534583.1:n.2314-20_2314-19insCT
XM_011536281.3:c.2314-20_2314-19insCT	XP_011534583.1:n.2314-20_2314-19insCT
XM_017011592.1:c.1828-20_1828-19insCT	XP_016867081.1:n.1828-20_1828-19insCT
XM_017011593.2:c.1447-20_1447-19insCT	XP_016867082.1:n.1447-20_1447-19insCT
NM_014845.6:c.2377-20_2377-19insCT MANE Select	NP_055660.1:n.2377-20_2377-19insCT