Canonical Allele Identifier: CA2573105932

Gene: FUS

Linked Data

• ClinVar Variation Id: 1073222
• ClinVar RCV Id: RCV001386161 ; RCV003222316
• dbSNP Id: rs2144142389

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191411_31191414del , CM000678.2:g.31191411_31191414del	GRCh38
NC_000016.9:g.31202732_31202735del , CM000678.1:g.31202732_31202735del	GRCh37
NC_000016.8:g.31110233_31110236del	NCBI36
NG_012889.2:g.16280_16283del , LRG_655:g.16280_16283del

Transcript Alleles

HGVS	Amino-acid change
ENST00000254108.12:c.1554_1557del MANE Select	ENSP00000254108.8:p.Gln519IlefsTer9
ENST00000254108.11:c.1554_1557del	ENSP00000254108.7:p.Gln519IlefsTer9
ENST00000380244.7:c.1551_1554del	ENSP00000369594.3:p.Gln518IlefsTer9
ENST00000483853.1:n.631_634del
ENST00000487509.6:n.4729_4732del
ENST00000566605.5:c.*727_*730del	ENSP00000455073.1:n.*727_*730del
ENST00000568685.1:c.1557_1560del	ENSP00000455282.1:p.Gln520IlefsTer9
ENST00000569760.5:n.445_448del
NM_001170634.1:c.1551_1554del	NP_001164105.1:p.Gln518IlefsTer9
NM_001170937.1:c.1542_1545del	NP_001164408.1:p.Gln515IlefsTer9
NM_004960.3:c.1554_1557del , LRG_655t1:c.1554_1557del	NP_004951.1:p.Gln519IlefsTer9
NR_028388.2:n.1624_1627del
XM_005255233.3:c.939_942del	XP_005255290.1:p.Gln314IlefsTer9
XM_011545781.1:c.1548_1551del	XP_011544083.1:p.Gln517IlefsTer9
XM_011545782.1:c.939_942del	XP_011544084.1:p.Gln314IlefsTer9
XM_005255233.5:c.939_942del	XP_005255290.1:p.Gln314IlefsTer9
XM_011545782.2:c.939_942del	XP_011544084.1:p.Gln314IlefsTer9
XM_024450221.1:c.1545_1548del	XP_024305989.1:p.Gln516IlefsTer9
NM_004960.4:c.1554_1557del MANE Select	NP_004951.1:p.Gln519IlefsTer9