Canonical Allele Identifier: CA1210322181

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564948_179564965delinsACAGGGCCTGGGGAGGAG , CM000663.2:g.179564948_179564965delinsACAGGGCCTGGGGAGGAG	GRCh38
NC_000001.10:g.179534083_179534100delinsACAGGGCCTGGGGAGGAG , CM000663.1:g.179534083_179534100delinsACAGGGCCTGGGGAGGAG	GRCh37
NC_000001.9:g.177800706_177800723delinsACAGGGCCTGGGGAGGAG	NCBI36
NG_007535.1:g.15985_16002delinsCTCCTCCCCAGGCCCTGT , LRG_887:g.15985_16002delinsCTCCTCCCCAGGCCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT MANE Select	ENSP00000356587.4:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
ENST00000367615.8:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	ENSP00000356587.4:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
ENST00000367616.4:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	ENSP00000356588.4:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
NM_001297575.1:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	NP_001284504.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
NM_014625.3:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT , LRG_887t1:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	NP_055440.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
XM_005245483.2:c.275-5204_275-5187delinsCTCCTCCCCAGGCCCTGT	XP_005245540.1:n.275-5204_275-5187delinsCTCCTCCCCAGGCCCTGT
XM_006711529.2:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	XP_006711592.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
XM_005245483.3:c.275-5204_275-5187delinsCTCCTCCCCAGGCCCTGT	XP_005245540.1:n.275-5204_275-5187delinsCTCCTCCCCAGGCCCTGT
XM_017002298.1:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	XP_016857787.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
XM_017002299.1:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	XP_016857788.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
NM_001297575.2:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT	NP_001284504.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT
NM_014625.4:c.275-172_275-155delinsCTCCTCCCCAGGCCCTGT MANE Select	NP_055440.1:n.275-172_275-155delinsCTCCTCCCCAGGCCCTGT