Canonical Allele Identifier: CA719930580

Gene: FUS

Linked Data

• ClinVar Variation Id: 2923277
• ClinVar RCV Id: RCV003780395
• dbSNP Id: rs1374114505
• gnomAD v4: 16-31185057-AGGCCGCGGCAGGGGTGGCAGTGGT-A
• MyVariant Identifiers: chr16:g.31196379_31196402del (hg19) ; chr16:g.31185058_31185081del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31185061_31185084del , CM000678.2:g.31185061_31185084del	GRCh38
NC_000016.9:g.31196382_31196405del , CM000678.1:g.31196382_31196405del	GRCh37
NC_000016.8:g.31103883_31103906del	NCBI36
NG_012889.2:g.9930_9953del , LRG_655:g.9930_9953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254108.12:c.646_669del MANE Select	ENSP00000254108.8:p.Arg216_Gly223del
ENST00000254108.11:c.646_669del	ENSP00000254108.7:p.Arg216_Gly223del
ENST00000380244.7:c.643_666del	ENSP00000369594.3:p.Arg215_Gly222del
ENST00000487509.6:n.711_734del
ENST00000566605.5:c.646_669del	ENSP00000455073.1:p.Arg216_Gly223del
ENST00000568685.1:c.646_669del	ENSP00000455282.1:p.Arg216_Gly223del
NM_001170634.1:c.643_666del	NP_001164105.1:p.Arg215_Gly222del
NM_001170937.1:c.634_657del	NP_001164408.1:p.Arg212_Gly219del
NM_004960.3:c.646_669del , LRG_655t1:c.646_669del	NP_004951.1:p.Arg216_Gly223del
NR_028388.2:n.751_774del
XM_005255233.3:c.66_89del	XP_005255290.1:p.Ala23_Ala30del
XM_011545781.1:c.640_663del	XP_011544083.1:p.Arg214_Gly221del
XM_011545782.1:c.66_89del	XP_011544084.1:p.Ala23_Ala30del
XM_005255233.5:c.66_89del	XP_005255290.1:p.Ala23_Ala30del
XM_011545782.2:c.66_89del	XP_011544084.1:p.Ala23_Ala30del
XM_024450221.1:c.637_660del	XP_024305989.1:p.Arg213_Gly220del
NM_004960.4:c.646_669del MANE Select	NP_004951.1:p.Arg216_Gly223del