Canonical Allele Identifier: CA913189510

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 599119
• ClinVar RCV Id: RCV000735717
• dbSNP Id: rs1558355124

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575698del , CM000663.2:g.179575698del	GRCh38
NC_000001.10:g.179544833del , CM000663.1:g.179544833del	GRCh37
NC_000001.9:g.177811456del	NCBI36
NG_007535.1:g.5252del , LRG_887:g.5252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.167del MANE Select	ENSP00000356587.4:p.Glu56GlyfsTer?
ENST00000367615.8:c.167del	ENSP00000356587.4:p.Glu56GlyfsTer?
ENST00000367616.4:c.167del	ENSP00000356588.4:p.Glu56GlyfsTer?
NM_001297575.1:c.167del	NP_001284504.1:p.Glu56GlyfsTer?
NM_014625.3:c.167del , LRG_887t1:c.167del	NP_055440.1:p.Glu56GlyfsTer?
XM_005245483.2:c.167del	XP_005245540.1:p.Glu56GlyfsTer?
XM_006711529.2:c.167del	XP_006711592.1:p.Glu56GlyfsTer?
XM_005245483.3:c.167del	XP_005245540.1:p.Glu56GlyfsTer?
XM_017002298.1:c.167del	XP_016857787.1:p.Glu56GlyfsTer?
XM_017002299.1:c.167del	XP_016857788.1:p.Glu56GlyfsTer?
NM_001297575.2:c.167del	NP_001284504.1:p.Glu56GlyfsTer?
NM_014625.4:c.167del MANE Select	NP_055440.1:p.Glu56GlyfsTer?