Canonical Allele Identifier: CA658822858

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 551115
• ClinVar RCV Id: RCV000666087
• dbSNP Id: rs1553316648

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575763delinsCC , CM000663.2:g.179575763delinsCC	GRCh38
NC_000001.10:g.179544898delinsCC , CM000663.1:g.179544898delinsCC	GRCh37
NC_000001.9:g.177811521delinsCC	NCBI36
NG_007535.1:g.5187delinsGG , LRG_887:g.5187delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.102delinsGG MANE Select	ENSP00000356587.4:p.Arg36ProfsTer?
ENST00000367615.8:c.102delinsGG	ENSP00000356587.4:p.Arg36ProfsTer?
ENST00000367616.4:c.102delinsGG	ENSP00000356588.4:p.Arg36ProfsTer?
NM_001297575.1:c.102delinsGG	NP_001284504.1:p.Arg36ProfsTer?
NM_014625.3:c.102delinsGG , LRG_887t1:c.102delinsGG	NP_055440.1:p.Arg36ProfsTer?
XM_005245483.2:c.102delinsGG	XP_005245540.1:p.Arg36ProfsTer?
XM_006711529.2:c.102delinsGG	XP_006711592.1:p.Arg36ProfsTer?
XM_005245483.3:c.102delinsGG	XP_005245540.1:p.Arg36ProfsTer?
XM_017002298.1:c.102delinsGG	XP_016857787.1:p.Arg36ProfsTer?
XM_017002299.1:c.102delinsGG	XP_016857788.1:p.Arg36ProfsTer?
NM_001297575.2:c.102delinsGG	NP_001284504.1:p.Arg36ProfsTer?
NM_014625.4:c.102delinsGG MANE Select	NP_055440.1:p.Arg36ProfsTer?