Canonical Allele Identifier: CA116365

Gene: SUFU

Linked Data

• ClinVar Variation Id: 3573
• ClinVar RCV Id: RCV001385138 ; RCV001573665 ; RCV002291208 ; RCV003227597 ; RCV003298027
• dbSNP Id: rs587776579
• gnomAD v4: 10-102504216-GC-G
• COSMIC: COSM5173523
• MyVariant Identifiers: chr10:g.104263980del (hg19) ; chr10:g.102504223del (hg38)
• PubMed: PMID:19833601

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102504223del , CM000672.2:g.102504223del	GRCh38
NC_000010.10:g.104263980del , CM000672.1:g.104263980del	GRCh37
NC_000010.9:g.104253970del	NCBI36
NG_011901.1:g.3539del
NG_021338.1:g.5262del , LRG_521:g.5262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.71del MANE Select	ENSP00000358918.4:p.Pro24ArgfsTer?
ENST00000369899.6:c.71del	ENSP00000358915.2:p.Pro24ArgfsTer?
ENST00000369902.7:c.71del	ENSP00000358918.3:p.Pro24ArgfsTer?
ENST00000423559.2:c.71del	ENSP00000411597.2:p.Pro24ArgfsTer?
NM_001178133.1:c.71del	NP_001171604.1:p.Pro24ArgfsTer?
NM_016169.3:c.71del , LRG_521t1:c.71del	NP_057253.2:p.Pro24ArgfsTer?
XM_011539858.1:c.71del	XP_011538160.1:p.Pro24ArgfsTer?
XM_011539859.1:c.71del	XP_011538161.1:p.Pro24ArgfsTer?
XM_011539860.1:c.71del	XP_011538162.1:p.Pro24ArgfsTer?
XM_011539861.1:c.71del	XP_011538163.1:p.Pro24ArgfsTer?
XM_011539863.1:c.8+1237del	XP_011538165.1:n.8+1237del
XM_011539864.1:c.71del	XP_011538166.1:p.Pro24ArgfsTer?
XM_011539858.3:c.71del	XP_011538160.1:p.Pro24ArgfsTer?
XM_011539860.3:c.71del	XP_011538162.1:p.Pro24ArgfsTer?
XM_011539861.3:c.71del	XP_011538163.1:p.Pro24ArgfsTer?
XM_011539863.3:c.8+1237del	XP_011538165.1:n.8+1237del
XM_011539864.3:c.71del	XP_011538166.1:p.Pro24ArgfsTer?
NM_001178133.2:c.71del	NP_001171604.1:p.Pro24ArgfsTer?
NM_016169.4:c.71del MANE Select	NP_057253.2:p.Pro24ArgfsTer?