Canonical Allele Identifier: CA2580061536

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1724688
• ClinVar RCV Id: RCV002309956

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559684_179559685del , CM000663.2:g.179559684_179559685del	GRCh38
NC_000001.10:g.179528819_179528820del , CM000663.1:g.179528819_179528820del	GRCh37
NC_000001.9:g.177795442_177795443del	NCBI36
NG_007535.1:g.21265_21266del , LRG_887:g.21265_21266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.528_529del MANE Select	ENSP00000356587.4:p.Phe176LeufsTer2
ENST00000367615.8:c.528_529del	ENSP00000356587.4:p.Phe176LeufsTer2
ENST00000367616.4:c.528_529del	ENSP00000356588.4:p.Phe176LeufsTer2
NM_001297575.1:c.528_529del	NP_001284504.1:p.Phe176LeufsTer2
NM_014625.3:c.528_529del , LRG_887t1:c.528_529del	NP_055440.1:p.Phe176LeufsTer2
XM_005245483.2:c.351_352del	XP_005245540.1:p.Phe117LeufsTer2
XM_006711529.2:c.528_529del	XP_006711592.1:p.Phe176LeufsTer2
XM_005245483.3:c.351_352del	XP_005245540.1:p.Phe117LeufsTer2
XM_017002298.1:c.455_456del	XP_016857787.1:p.Phe152TyrfsTer3
XM_017002299.1:c.528_529del	XP_016857788.1:p.Phe176LeufsTer2
NM_001297575.2:c.528_529del	NP_001284504.1:p.Phe176LeufsTer2
NM_014625.4:c.528_529del MANE Select	NP_055440.1:p.Phe176LeufsTer2