Canonical Allele Identifier: CA2580061541

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1726960
• ClinVar RCV Id: RCV002308435

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561327_179561330del , CM000663.2:g.179561327_179561330del	GRCh38
NC_000001.10:g.179530462_179530465del , CM000663.1:g.179530462_179530465del	GRCh37
NC_000001.9:g.177797085_177797088del	NCBI36
NG_007535.1:g.19620_19623del , LRG_887:g.19620_19623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.410_413del MANE Select	ENSP00000356587.4:p.Phe137TyrfsTer?
ENST00000367615.8:c.410_413del	ENSP00000356587.4:p.Phe137TyrfsTer?
ENST00000367616.4:c.410_413del	ENSP00000356588.4:p.Phe137TyrfsTer?
NM_001297575.1:c.410_413del	NP_001284504.1:p.Phe137TyrfsTer?
NM_014625.3:c.410_413del , LRG_887t1:c.410_413del	NP_055440.1:p.Phe137TyrfsTer?
XM_005245483.2:c.275-1569_275-1566del	XP_005245540.1:n.275-1569_275-1566del
XM_006711529.2:c.410_413del	XP_006711592.1:p.Phe137TyrfsTer?
XM_005245483.3:c.275-1569_275-1566del	XP_005245540.1:n.275-1569_275-1566del
XM_017002298.1:c.379-1569_379-1566del	XP_016857787.1:n.379-1569_379-1566del
XM_017002299.1:c.410_413del	XP_016857788.1:p.Phe137TyrfsTer?
NM_001297575.2:c.410_413del	NP_001284504.1:p.Phe137TyrfsTer?
NM_014625.4:c.410_413del MANE Select	NP_055440.1:p.Phe137TyrfsTer?