Canonical Allele Identifier: CA2497173796

Gene: FIG4

Linked Data

• dbSNP Id: rs876661144

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792644_109792646dup , CM000668.2:g.109792644_109792646dup	GRCh38
NC_000006.11:g.110113847_110113849dup , CM000668.1:g.110113847_110113849dup	GRCh37
NC_000006.10:g.110220540_110220542dup	NCBI36
NG_007977.1:g.106424_106426dup , LRG_241:g.106424_106426dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2439_2441dup MANE Select	ENSP00000230124.4:p.Glu813_Asp814insGlu
ENST00000415980.2:c.945_947dup	ENSP00000405660.2:p.Glu315_Asp316insGlu
ENST00000419951.2:n.787_789dup
ENST00000674532.1:n.5635_5637dup
ENST00000674557.1:c.*1732_*1734dup	ENSP00000501608.1:n.*1732_*1734dup
ENST00000674569.1:c.*1558_*1560dup	ENSP00000502769.1:n.*1558_*1560dup
ENST00000674571.1:c.*1558_*1560dup	ENSP00000501633.1:n.*1558_*1560dup
ENST00000674575.1:c.*1558_*1560dup	ENSP00000502276.1:n.*1558_*1560dup
ENST00000674641.1:c.2094_2096dup	ENSP00000501609.1:p.Glu698_Asp699insGlu
ENST00000674649.1:c.*2132_*2134dup	ENSP00000501669.1:n.*2132_*2134dup
ENST00000674657.1:c.*1871_*1873dup	ENSP00000502314.1:n.*1871_*1873dup
ENST00000674744.1:c.2433_2435dup	ENSP00000501661.1:p.Glu811_Asp812insGlu
ENST00000674778.1:c.*1657_*1659dup	ENSP00000502742.1:n.*1657_*1659dup
ENST00000674783.1:c.*1354_*1356dup	ENSP00000502755.1:n.*1354_*1356dup
ENST00000674884.1:c.2457_2459dup	ENSP00000502668.1:p.Glu819_Asp820insGlu
ENST00000674930.1:c.*1564_*1566dup	ENSP00000502657.1:n.*1564_*1566dup
ENST00000674933.1:c.2208_2210dup	ENSP00000502376.1:p.Glu736_Asp737insGlu
ENST00000674956.1:c.*1653_*1655dup	ENSP00000501904.1:n.*1653_*1655dup
ENST00000675004.1:c.*2391_*2393dup	ENSP00000501868.1:n.*2391_*2393dup
ENST00000675009.1:c.*1823_*1825dup	ENSP00000502098.1:n.*1823_*1825dup
ENST00000675096.1:c.2232_2234dup	ENSP00000502116.1:p.Glu744_Asp745insGlu
ENST00000675122.1:c.*546_*548dup	ENSP00000501810.1:n.*546_*548dup
ENST00000675153.1:c.*1156_*1158dup	ENSP00000501682.1:n.*1156_*1158dup
ENST00000675254.1:n.3898_3900dup
ENST00000675272.1:n.6737_6739dup
ENST00000675284.1:c.2439_2441dup	ENSP00000502758.1:p.Glu813_Asp814insGlu
ENST00000675301.1:n.1096_1098dup
ENST00000675311.1:c.*1641_*1643dup	ENSP00000501961.1:n.*1641_*1643dup
ENST00000675426.1:c.*1507_*1509dup	ENSP00000501819.1:n.*1507_*1509dup
ENST00000675523.1:c.2208_2210dup	ENSP00000502384.1:p.Glu736_Asp737insGlu
ENST00000675552.1:c.*4702_*4704dup	ENSP00000502197.1:n.*4702_*4704dup
ENST00000675726.1:c.2439_2441dup	ENSP00000502452.1:p.Glu813_Asp814insGlu
ENST00000675772.1:c.2439_2441dup	ENSP00000501678.1:p.Glu813_Asp814insGlu
ENST00000675831.1:c.2046_2048dup	ENSP00000502382.1:p.Glu682_Asp683insGlu
ENST00000675849.1:n.2061_2063dup
ENST00000675879.1:c.1284_1286dup
ENST00000675954.1:n.3772_3774dup
ENST00000675991.1:c.*4266_*4268dup	ENSP00000502162.1:n.*4266_*4268dup
ENST00000675994.1:c.*1578_*1580dup	ENSP00000502419.1:n.*1578_*1580dup
ENST00000676021.1:c.*1017_*1019dup	ENSP00000502746.1:n.*1017_*1019dup
ENST00000676037.1:c.*366_*368dup	ENSP00000502181.1:n.*366_*368dup
ENST00000676136.1:n.5086_5088dup
ENST00000676246.1:n.329_331dup
ENST00000676442.1:c.2310_2312dup	ENSP00000502595.1:p.Glu770_Asp771insGlu
ENST00000230124.7:c.2439_2441dup	ENSP00000230124.3:p.Glu813_Asp814insGlu
NM_014845.5:c.2439_2441dup , LRG_241t1:c.2439_2441dup	NP_055660.1:p.Glu813_Asp814insGlu
XM_011536281.1:c.2376_2378dup	XP_011534583.1:p.Glu792_Asp793insGlu
XM_011536281.3:c.2376_2378dup	XP_011534583.1:p.Glu792_Asp793insGlu
XM_017011592.1:c.1890_1892dup	XP_016867081.1:p.Glu630_Asp631insGlu
XM_017011593.2:c.1509_1511dup	XP_016867082.1:p.Glu503_Asp504insGlu
NM_014845.6:c.2439_2441dup MANE Select	NP_055660.1:p.Glu813_Asp814insGlu