Canonical Allele Identifier: CA2593986535

Gene: FUS

Linked Data

• gnomAD v3: 16-31191402-TGAGC-T
• gnomAD v4: 16-31191402-TGAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31191403_31191406del , CM000678.2:g.31191403_31191406del	GRCh38
NC_000016.9:g.31202724_31202727del , CM000678.1:g.31202724_31202727del	GRCh37
NC_000016.8:g.31110225_31110228del	NCBI36
NG_012889.2:g.16272_16275del , LRG_655:g.16272_16275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.1546_1549del MANE Select	ENSP00000254108.8:p.Glu516ThrfsTer12
ENST00000254108.11:c.1546_1549del	ENSP00000254108.7:p.Glu516ThrfsTer12
ENST00000380244.7:c.1543_1546del	ENSP00000369594.3:p.Glu515ThrfsTer12
ENST00000483853.1:n.623_626del
ENST00000487509.6:n.4721_4724del
ENST00000566605.5:c.*719_*722del	ENSP00000455073.1:n.*719_*722del
ENST00000568685.1:c.1549_1552del	ENSP00000455282.1:p.Glu517ThrfsTer12
ENST00000569760.5:n.437_440del
NM_001170634.1:c.1543_1546del	NP_001164105.1:p.Glu515ThrfsTer12
NM_001170937.1:c.1534_1537del	NP_001164408.1:p.Glu512ThrfsTer12
NM_004960.3:c.1546_1549del , LRG_655t1:c.1546_1549del	NP_004951.1:p.Glu516ThrfsTer12
NR_028388.2:n.1616_1619del
XM_005255233.3:c.931_934del	XP_005255290.1:p.Glu311ThrfsTer12
XM_011545781.1:c.1540_1543del	XP_011544083.1:p.Glu514ThrfsTer12
XM_011545782.1:c.931_934del	XP_011544084.1:p.Glu311ThrfsTer12
XM_005255233.5:c.931_934del	XP_005255290.1:p.Glu311ThrfsTer12
XM_011545782.2:c.931_934del	XP_011544084.1:p.Glu311ThrfsTer12
XM_024450221.1:c.1537_1540del	XP_024305989.1:p.Glu513ThrfsTer12
NM_004960.4:c.1546_1549del MANE Select	NP_004951.1:p.Glu516ThrfsTer12