Canonical Allele Identifier: CA1210320200

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559492_179559493delinsTC , CM000663.2:g.179559492_179559493delinsTC	GRCh38
NC_000001.10:g.179528627_179528628delinsTC , CM000663.1:g.179528627_179528628delinsTC	GRCh37
NC_000001.9:g.177795250_177795251delinsTC	NCBI36
NG_007535.1:g.21457_21458delinsGA , LRG_887:g.21457_21458delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.534+186_534+187delinsGA MANE Select	ENSP00000356587.4:n.534+186_534+187delinsGA
ENST00000367615.8:c.534+186_534+187delinsGA	ENSP00000356587.4:n.534+186_534+187delinsGA
ENST00000367616.4:c.534+186_534+187delinsGA	ENSP00000356588.4:n.534+186_534+187delinsGA
NM_001297575.1:c.534+186_534+187delinsGA	NP_001284504.1:n.534+186_534+187delinsGA
NM_014625.3:c.534+186_534+187delinsGA , LRG_887t1:c.534+186_534+187delinsGA	NP_055440.1:n.534+186_534+187delinsGA
XM_005245483.2:c.357+186_357+187delinsGA	XP_005245540.1:n.357+186_357+187delinsGA
XM_006711529.2:c.534+186_534+187delinsGA	XP_006711592.1:n.534+186_534+187delinsGA
XM_005245483.3:c.357+186_357+187delinsGA	XP_005245540.1:n.357+186_357+187delinsGA
XM_017002298.1:c.461+186_461+187delinsGA	XP_016857787.1:n.461+186_461+187delinsGA
XM_017002299.1:c.534+186_534+187delinsGA	XP_016857788.1:n.534+186_534+187delinsGA
NM_001297575.2:c.534+186_534+187delinsGA	NP_001284504.1:n.534+186_534+187delinsGA
NM_014625.4:c.534+186_534+187delinsGA MANE Select	NP_055440.1:n.534+186_534+187delinsGA