Canonical Allele Identifier: CA2580616857

Gene: SUFU

Linked Data

• ClinVar Variation Id: 1454347
• ClinVar RCV Id: RCV001960648
• dbSNP Id: rs2135597925

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102504234_102504238del , CM000672.2:g.102504234_102504238del	GRCh38
NC_000010.10:g.104263991_104263995del , CM000672.1:g.104263991_104263995del	GRCh37
NC_000010.9:g.104253981_104253985del	NCBI36
NG_011901.1:g.3525_3529del
NG_021338.1:g.5273_5277del , LRG_521:g.5273_5277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.82_86del MANE Select	ENSP00000358918.4:p.Ser28LeufsTer18
ENST00000369899.6:c.82_86del	ENSP00000358915.2:p.Ser28LeufsTer18
ENST00000369902.7:c.82_86del	ENSP00000358918.3:p.Ser28LeufsTer18
ENST00000423559.2:c.82_86del	ENSP00000411597.2:p.Ser28LeufsTer18
NM_001178133.1:c.82_86del	NP_001171604.1:p.Ser28LeufsTer18
NM_016169.3:c.82_86del , LRG_521t1:c.82_86del	NP_057253.2:p.Ser28LeufsTer18
XM_011539858.1:c.82_86del	XP_011538160.1:p.Ser28LeufsTer18
XM_011539859.1:c.82_86del	XP_011538161.1:p.Ser28LeufsTer18
XM_011539860.1:c.82_86del	XP_011538162.1:p.Ser28LeufsTer18
XM_011539861.1:c.82_86del	XP_011538163.1:p.Ser28LeufsTer18
XM_011539863.1:c.8+1248_8+1252del	XP_011538165.1:n.8+1248_8+1252del
XM_011539864.1:c.82_86del	XP_011538166.1:p.Ser28LeufsTer18
XM_011539858.3:c.82_86del	XP_011538160.1:p.Ser28LeufsTer18
XM_011539860.3:c.82_86del	XP_011538162.1:p.Ser28LeufsTer18
XM_011539861.3:c.82_86del	XP_011538163.1:p.Ser28LeufsTer18
XM_011539863.3:c.8+1248_8+1252del	XP_011538165.1:n.8+1248_8+1252del
XM_011539864.3:c.82_86del	XP_011538166.1:p.Ser28LeufsTer18
NM_001178133.2:c.82_86del	NP_001171604.1:p.Ser28LeufsTer18
NM_016169.4:c.82_86del MANE Select	NP_057253.2:p.Ser28LeufsTer18