Canonical Allele Identifier: CA145140366

Gene: FIG4

Linked Data

• gnomAD v2: 6-110113763-C-CTT
• gnomAD v3: 6-109792560-C-CTT
• gnomAD v4: 6-109792560-C-CTT
• MyVariant Identifiers: chr6:g.110113767_110113768insTT (hg19) ; chr6:g.110113764_110113765insTT (hg19) ; chr6:g.109792564_109792565insTT (hg38) ; chr6:g.109792561_109792562insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792571_109792572dup , CM000668.2:g.109792571_109792572dup	GRCh38
NC_000006.11:g.110113774_110113775dup , CM000668.1:g.110113774_110113775dup	GRCh37
NC_000006.10:g.110220467_110220468dup	NCBI36
NG_007977.1:g.106351_106352dup , LRG_241:g.106351_106352dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2377-11_2377-10dup MANE Select	ENSP00000230124.4:n.2377-11_2377-10dup
ENST00000415980.2:c.883-11_883-10dup	ENSP00000405660.2:n.883-11_883-10dup
ENST00000419951.2:n.725-11_725-10dup
ENST00000674532.1:n.5573-11_5573-10dup
ENST00000674557.1:c.*1670-11_*1670-10dup	ENSP00000501608.1:n.*1670-11_*1670-10dup
ENST00000674569.1:c.*1496-11_*1496-10dup	ENSP00000502769.1:n.*1496-11_*1496-10dup
ENST00000674571.1:c.*1496-11_*1496-10dup	ENSP00000501633.1:n.*1496-11_*1496-10dup
ENST00000674575.1:c.*1496-11_*1496-10dup	ENSP00000502276.1:n.*1496-11_*1496-10dup
ENST00000674641.1:c.2032-11_2032-10dup	ENSP00000501609.1:n.2032-11_2032-10dup
ENST00000674644.1:c.1447-11_1447-10dup	ENSP00000502201.1:n.1447-11_1447-10dup
ENST00000674649.1:c.*2070-11_*2070-10dup	ENSP00000501669.1:n.*2070-11_*2070-10dup
ENST00000674657.1:c.*1809-11_*1809-10dup	ENSP00000502314.1:n.*1809-11_*1809-10dup
ENST00000674744.1:c.2371-11_2371-10dup	ENSP00000501661.1:n.2371-11_2371-10dup
ENST00000674778.1:c.*1595-11_*1595-10dup	ENSP00000502742.1:n.*1595-11_*1595-10dup
ENST00000674783.1:c.*1292-11_*1292-10dup	ENSP00000502755.1:n.*1292-11_*1292-10dup
ENST00000674884.1:c.2395-11_2395-10dup	ENSP00000502668.1:n.2395-11_2395-10dup
ENST00000674930.1:c.*1502-11_*1502-10dup	ENSP00000502657.1:n.*1502-11_*1502-10dup
ENST00000674933.1:c.2146-11_2146-10dup	ENSP00000502376.1:n.2146-11_2146-10dup
ENST00000674956.1:c.*1591-11_*1591-10dup	ENSP00000501904.1:n.*1591-11_*1591-10dup
ENST00000675004.1:c.*2329-11_*2329-10dup	ENSP00000501868.1:n.*2329-11_*2329-10dup
ENST00000675009.1:c.*1761-11_*1761-10dup	ENSP00000502098.1:n.*1761-11_*1761-10dup
ENST00000675096.1:c.2170-11_2170-10dup	ENSP00000502116.1:n.2170-11_2170-10dup
ENST00000675122.1:c.*484-11_*484-10dup	ENSP00000501810.1:n.*484-11_*484-10dup
ENST00000675153.1:c.*1094-11_*1094-10dup	ENSP00000501682.1:n.*1094-11_*1094-10dup
ENST00000675254.1:n.3825_3826dup
ENST00000675272.1:n.6675-11_6675-10dup
ENST00000675284.1:c.2377-11_2377-10dup	ENSP00000502758.1:n.2377-11_2377-10dup
ENST00000675301.1:n.1034-11_1034-10dup
ENST00000675311.1:c.*1579-11_*1579-10dup	ENSP00000501961.1:n.*1579-11_*1579-10dup
ENST00000675426.1:c.*1445-11_*1445-10dup	ENSP00000501819.1:n.*1445-11_*1445-10dup
ENST00000675523.1:c.2146-11_2146-10dup	ENSP00000502384.1:n.2146-11_2146-10dup
ENST00000675552.1:c.*4640-11_*4640-10dup	ENSP00000502197.1:n.*4640-11_*4640-10dup
ENST00000675726.1:c.2377-11_2377-10dup	ENSP00000502452.1:n.2377-11_2377-10dup
ENST00000675772.1:c.2377-11_2377-10dup	ENSP00000501678.1:n.2377-11_2377-10dup
ENST00000675831.1:c.1984-11_1984-10dup	ENSP00000502382.1:n.1984-11_1984-10dup
ENST00000675849.1:n.1999-11_1999-10dup
ENST00000675879.1:c.1222-11_1222-10dup
ENST00000675887.1:c.*1980-11_*1980-10dup	ENSP00000502123.1:n.*1980-11_*1980-10dup
ENST00000675954.1:n.3710-11_3710-10dup
ENST00000675991.1:c.*4193_*4194dup	ENSP00000502162.1:n.*4193_*4194dup
ENST00000675994.1:c.*1516-11_*1516-10dup	ENSP00000502419.1:n.*1516-11_*1516-10dup
ENST00000676021.1:c.*955-11_*955-10dup	ENSP00000502746.1:n.*955-11_*955-10dup
ENST00000676037.1:c.*304-11_*304-10dup	ENSP00000502181.1:n.*304-11_*304-10dup
ENST00000676136.1:n.5024-11_5024-10dup
ENST00000676246.1:n.267-11_267-10dup
ENST00000676442.1:c.2248-11_2248-10dup	ENSP00000502595.1:n.2248-11_2248-10dup
ENST00000230124.7:c.2377-11_2377-10dup	ENSP00000230124.3:n.2377-11_2377-10dup
NM_014845.5:c.2377-11_2377-10dup , LRG_241t1:c.2377-11_2377-10dup	NP_055660.1:n.2377-11_2377-10dup
XM_011536281.1:c.2314-11_2314-10dup	XP_011534583.1:n.2314-11_2314-10dup
XM_011536281.3:c.2314-11_2314-10dup	XP_011534583.1:n.2314-11_2314-10dup
XM_017011592.1:c.1828-11_1828-10dup	XP_016867081.1:n.1828-11_1828-10dup
XM_017011593.2:c.1447-11_1447-10dup	XP_016867082.1:n.1447-11_1447-10dup
NM_014845.6:c.2377-11_2377-10dup MANE Select	NP_055660.1:n.2377-11_2377-10dup