Canonical Allele Identifier: CA1210319279

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557187_179557189delinsCAA , CM000663.2:g.179557187_179557189delinsCAA	GRCh38
NC_000001.10:g.179526322_179526324delinsCAA , CM000663.1:g.179526322_179526324delinsCAA	GRCh37
NC_000001.9:g.177792945_177792947delinsCAA	NCBI36
NG_007535.1:g.23761_23763delinsTTG , LRG_887:g.23761_23763delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.576_578delinsTTG MANE Select	ENSP00000356587.4:p.Ile192=
ENST00000367615.8:c.576_578delinsTTG	ENSP00000356587.4:p.Ile192=
ENST00000367616.4:c.534+2490_534+2492delinsTTG	ENSP00000356588.4:n.534+2490_534+2492delinsTTG
NM_001297575.1:c.534+2490_534+2492delinsTTG	NP_001284504.1:n.534+2490_534+2492delinsTTG
NM_014625.3:c.576_578delinsTTG , LRG_887t1:c.576_578delinsTTG	NP_055440.1:p.Ile192=
XM_005245483.2:c.399_401delinsTTG	XP_005245540.1:p.Ile133=
XM_006711529.2:c.576_578delinsTTG	XP_006711592.1:p.Ile192=
XM_005245483.3:c.399_401delinsTTG	XP_005245540.1:p.Ile133=
XM_017002298.1:c.461+2490_461+2492delinsTTG	XP_016857787.1:n.461+2490_461+2492delinsTTG
XM_017002299.1:c.534+2490_534+2492delinsTTG	XP_016857788.1:n.534+2490_534+2492delinsTTG
NM_001297575.2:c.534+2490_534+2492delinsTTG	NP_001284504.1:n.534+2490_534+2492delinsTTG
NM_014625.4:c.576_578delinsTTG MANE Select	NP_055440.1:p.Ile192=