Canonical Allele Identifier: CA817092623

Gene: FIG4

Linked Data

• dbSNP Id: rs1241656500
• gnomAD v3: 6-109792494-TCA-T
• gnomAD v4: 6-109792494-TCA-T
• MyVariant Identifiers: chr6:g.110113698_110113699del (hg19) ; chr6:g.109792495_109792496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792497_109792498del , CM000668.2:g.109792497_109792498del	GRCh38
NC_000006.11:g.110113700_110113701del , CM000668.1:g.110113700_110113701del	GRCh37
NC_000006.10:g.110220393_110220394del	NCBI36
NG_007977.1:g.106277_106278del , LRG_241:g.106277_106278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2377-85_2377-84del MANE Select	ENSP00000230124.4:n.2377-85_2377-84del
ENST00000415980.2:c.883-85_883-84del	ENSP00000405660.2:n.883-85_883-84del
ENST00000419951.2:n.725-85_725-84del
ENST00000674532.1:n.5573-85_5573-84del
ENST00000674557.1:c.*1670-85_*1670-84del	ENSP00000501608.1:n.*1670-85_*1670-84del
ENST00000674569.1:c.*1496-85_*1496-84del	ENSP00000502769.1:n.*1496-85_*1496-84del
ENST00000674571.1:c.*1496-85_*1496-84del	ENSP00000501633.1:n.*1496-85_*1496-84del
ENST00000674575.1:c.*1496-85_*1496-84del	ENSP00000502276.1:n.*1496-85_*1496-84del
ENST00000674641.1:c.2032-85_2032-84del	ENSP00000501609.1:n.2032-85_2032-84del
ENST00000674644.1:c.1447-85_1447-84del	ENSP00000502201.1:n.1447-85_1447-84del
ENST00000674649.1:c.*2070-85_*2070-84del	ENSP00000501669.1:n.*2070-85_*2070-84del
ENST00000674657.1:c.*1809-85_*1809-84del	ENSP00000502314.1:n.*1809-85_*1809-84del
ENST00000674744.1:c.2371-85_2371-84del	ENSP00000501661.1:n.2371-85_2371-84del
ENST00000674778.1:c.*1595-85_*1595-84del	ENSP00000502742.1:n.*1595-85_*1595-84del
ENST00000674783.1:c.*1292-85_*1292-84del	ENSP00000502755.1:n.*1292-85_*1292-84del
ENST00000674884.1:c.2395-85_2395-84del	ENSP00000502668.1:n.2395-85_2395-84del
ENST00000674930.1:c.*1502-85_*1502-84del	ENSP00000502657.1:n.*1502-85_*1502-84del
ENST00000674933.1:c.2146-85_2146-84del	ENSP00000502376.1:n.2146-85_2146-84del
ENST00000674956.1:c.*1591-85_*1591-84del	ENSP00000501904.1:n.*1591-85_*1591-84del
ENST00000675004.1:c.*2329-85_*2329-84del	ENSP00000501868.1:n.*2329-85_*2329-84del
ENST00000675009.1:c.*1761-85_*1761-84del	ENSP00000502098.1:n.*1761-85_*1761-84del
ENST00000675096.1:c.2170-85_2170-84del	ENSP00000502116.1:n.2170-85_2170-84del
ENST00000675122.1:c.*484-85_*484-84del	ENSP00000501810.1:n.*484-85_*484-84del
ENST00000675153.1:c.*1094-85_*1094-84del	ENSP00000501682.1:n.*1094-85_*1094-84del
ENST00000675254.1:n.3751_3752del
ENST00000675272.1:n.6675-85_6675-84del
ENST00000675284.1:c.2377-85_2377-84del	ENSP00000502758.1:n.2377-85_2377-84del
ENST00000675301.1:n.1034-85_1034-84del
ENST00000675311.1:c.*1579-85_*1579-84del	ENSP00000501961.1:n.*1579-85_*1579-84del
ENST00000675426.1:c.*1445-85_*1445-84del	ENSP00000501819.1:n.*1445-85_*1445-84del
ENST00000675523.1:c.2146-85_2146-84del	ENSP00000502384.1:n.2146-85_2146-84del
ENST00000675552.1:c.*4640-85_*4640-84del	ENSP00000502197.1:n.*4640-85_*4640-84del
ENST00000675726.1:c.2377-85_2377-84del	ENSP00000502452.1:n.2377-85_2377-84del
ENST00000675772.1:c.2377-85_2377-84del	ENSP00000501678.1:n.2377-85_2377-84del
ENST00000675831.1:c.1984-85_1984-84del	ENSP00000502382.1:n.1984-85_1984-84del
ENST00000675849.1:n.1999-85_1999-84del
ENST00000675879.1:c.1222-85_1222-84del
ENST00000675887.1:c.*1980-85_*1980-84del	ENSP00000502123.1:n.*1980-85_*1980-84del
ENST00000675954.1:n.3710-85_3710-84del
ENST00000675991.1:c.*4119_*4120del	ENSP00000502162.1:n.*4119_*4120del
ENST00000675994.1:c.*1516-85_*1516-84del	ENSP00000502419.1:n.*1516-85_*1516-84del
ENST00000676021.1:c.*955-85_*955-84del	ENSP00000502746.1:n.*955-85_*955-84del
ENST00000676037.1:c.*304-85_*304-84del	ENSP00000502181.1:n.*304-85_*304-84del
ENST00000676136.1:n.5024-85_5024-84del
ENST00000676246.1:n.267-85_267-84del
ENST00000676442.1:c.2248-85_2248-84del	ENSP00000502595.1:n.2248-85_2248-84del
ENST00000230124.7:c.2377-85_2377-84del	ENSP00000230124.3:n.2377-85_2377-84del
NM_014845.5:c.2377-85_2377-84del , LRG_241t1:c.2377-85_2377-84del	NP_055660.1:n.2377-85_2377-84del
XM_011536281.1:c.2314-85_2314-84del	XP_011534583.1:n.2314-85_2314-84del
XM_011536281.3:c.2314-85_2314-84del	XP_011534583.1:n.2314-85_2314-84del
XM_017011592.1:c.1828-85_1828-84del	XP_016867081.1:n.1828-85_1828-84del
XM_017011593.2:c.1447-85_1447-84del	XP_016867082.1:n.1447-85_1447-84del
NM_014845.6:c.2377-85_2377-84del MANE Select	NP_055660.1:n.2377-85_2377-84del