Canonical Allele Identifier: CA1210320195

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559483_179559484delinsCA , CM000663.2:g.179559483_179559484delinsCA	GRCh38
NC_000001.10:g.179528618_179528619delinsCA , CM000663.1:g.179528618_179528619delinsCA	GRCh37
NC_000001.9:g.177795241_177795242delinsCA	NCBI36
NG_007535.1:g.21466_21467delinsTG , LRG_887:g.21466_21467delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.534+195_534+196delinsTG MANE Select	ENSP00000356587.4:n.534+195_534+196delinsTG
ENST00000367615.8:c.534+195_534+196delinsTG	ENSP00000356587.4:n.534+195_534+196delinsTG
ENST00000367616.4:c.534+195_534+196delinsTG	ENSP00000356588.4:n.534+195_534+196delinsTG
NM_001297575.1:c.534+195_534+196delinsTG	NP_001284504.1:n.534+195_534+196delinsTG
NM_014625.3:c.534+195_534+196delinsTG , LRG_887t1:c.534+195_534+196delinsTG	NP_055440.1:n.534+195_534+196delinsTG
XM_005245483.2:c.357+195_357+196delinsTG	XP_005245540.1:n.357+195_357+196delinsTG
XM_006711529.2:c.534+195_534+196delinsTG	XP_006711592.1:n.534+195_534+196delinsTG
XM_005245483.3:c.357+195_357+196delinsTG	XP_005245540.1:n.357+195_357+196delinsTG
XM_017002298.1:c.461+195_461+196delinsTG	XP_016857787.1:n.461+195_461+196delinsTG
XM_017002299.1:c.534+195_534+196delinsTG	XP_016857788.1:n.534+195_534+196delinsTG
NM_001297575.2:c.534+195_534+196delinsTG	NP_001284504.1:n.534+195_534+196delinsTG
NM_014625.4:c.534+195_534+196delinsTG MANE Select	NP_055440.1:n.534+195_534+196delinsTG