Canonical Allele Identifier: CA2679972415

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792586-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792588del , CM000668.2:g.109792588del	GRCh38
NC_000006.11:g.110113791del , CM000668.1:g.110113791del	GRCh37
NC_000006.10:g.110220484del	NCBI36
NG_007977.1:g.106368del , LRG_241:g.106368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2383del MANE Select	ENSP00000230124.4:p.Val795SerfsTer4
ENST00000415980.2:c.889del	ENSP00000405660.2:p.Val297SerfsTer4
ENST00000419951.2:n.731del
ENST00000674532.1:n.5579del
ENST00000674557.1:c.*1676del	ENSP00000501608.1:n.*1676del
ENST00000674569.1:c.*1502del	ENSP00000502769.1:n.*1502del
ENST00000674571.1:c.*1502del	ENSP00000501633.1:n.*1502del
ENST00000674575.1:c.*1502del	ENSP00000502276.1:n.*1502del
ENST00000674641.1:c.2038del	ENSP00000501609.1:p.Val680SerfsTer4
ENST00000674644.1:c.1453del	ENSP00000502201.1:p.Val485SerfsTer4
ENST00000674649.1:c.*2076del	ENSP00000501669.1:n.*2076del
ENST00000674657.1:c.*1815del	ENSP00000502314.1:n.*1815del
ENST00000674744.1:c.2377del	ENSP00000501661.1:p.Val793SerfsTer4
ENST00000674778.1:c.*1601del	ENSP00000502742.1:n.*1601del
ENST00000674783.1:c.*1298del	ENSP00000502755.1:n.*1298del
ENST00000674884.1:c.2401del	ENSP00000502668.1:p.Val801SerfsTer4
ENST00000674930.1:c.*1508del	ENSP00000502657.1:n.*1508del
ENST00000674933.1:c.2152del	ENSP00000502376.1:p.Val718SerfsTer4
ENST00000674956.1:c.*1597del	ENSP00000501904.1:n.*1597del
ENST00000675004.1:c.*2335del	ENSP00000501868.1:n.*2335del
ENST00000675009.1:c.*1767del	ENSP00000502098.1:n.*1767del
ENST00000675096.1:c.2176del	ENSP00000502116.1:p.Val726SerfsTer4
ENST00000675122.1:c.*490del	ENSP00000501810.1:n.*490del
ENST00000675153.1:c.*1100del	ENSP00000501682.1:n.*1100del
ENST00000675254.1:n.3842del
ENST00000675272.1:n.6681del
ENST00000675284.1:c.2383del	ENSP00000502758.1:p.Val795SerfsTer4
ENST00000675301.1:n.1040del
ENST00000675311.1:c.*1585del	ENSP00000501961.1:n.*1585del
ENST00000675426.1:c.*1451del	ENSP00000501819.1:n.*1451del
ENST00000675523.1:c.2152del	ENSP00000502384.1:p.Val718SerfsTer4
ENST00000675552.1:c.*4646del	ENSP00000502197.1:n.*4646del
ENST00000675726.1:c.2383del	ENSP00000502452.1:p.Val795SerfsTer4
ENST00000675772.1:c.2383del	ENSP00000501678.1:p.Val795SerfsTer4
ENST00000675831.1:c.1990del	ENSP00000502382.1:p.Val664SerfsTer4
ENST00000675849.1:n.2005del
ENST00000675879.1:c.1228del
ENST00000675887.1:c.*1986del	ENSP00000502123.1:n.*1986del
ENST00000675954.1:n.3716del
ENST00000675991.1:c.*4210del	ENSP00000502162.1:n.*4210del
ENST00000675994.1:c.*1522del	ENSP00000502419.1:n.*1522del
ENST00000676021.1:c.*961del	ENSP00000502746.1:n.*961del
ENST00000676037.1:c.*310del	ENSP00000502181.1:n.*310del
ENST00000676136.1:n.5030del
ENST00000676246.1:n.273del
ENST00000676442.1:c.2254del	ENSP00000502595.1:p.Val752SerfsTer4
ENST00000230124.7:c.2383del	ENSP00000230124.3:p.Val795SerfsTer4
NM_014845.5:c.2383del , LRG_241t1:c.2383del	NP_055660.1:p.Val795SerfsTer4
XM_011536281.1:c.2320del	XP_011534583.1:p.Val774SerfsTer4
XM_011536281.3:c.2320del	XP_011534583.1:p.Val774SerfsTer4
XM_017011592.1:c.1834del	XP_016867081.1:p.Val612SerfsTer4
XM_017011593.2:c.1453del	XP_016867082.1:p.Val485SerfsTer4
NM_014845.6:c.2383del MANE Select	NP_055660.1:p.Val795SerfsTer4