Canonical Allele Identifier: CA2510449646

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559496_179559497insA , CM000663.2:g.179559496_179559497insA	GRCh38
NC_000001.10:g.179528631_179528632insA , CM000663.1:g.179528631_179528632insA	GRCh37
NC_000001.9:g.177795254_177795255insA	NCBI36
NG_007535.1:g.21453_21454insT , LRG_887:g.21453_21454insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.534+182_534+183insT MANE Select	ENSP00000356587.4:n.534+182_534+183insT
ENST00000367615.8:c.534+182_534+183insT	ENSP00000356587.4:n.534+182_534+183insT
ENST00000367616.4:c.534+182_534+183insT	ENSP00000356588.4:n.534+182_534+183insT
NM_001297575.1:c.534+182_534+183insT	NP_001284504.1:n.534+182_534+183insT
NM_014625.3:c.534+182_534+183insT , LRG_887t1:c.534+182_534+183insT	NP_055440.1:n.534+182_534+183insT
XM_005245483.2:c.357+182_357+183insT	XP_005245540.1:n.357+182_357+183insT
XM_006711529.2:c.534+182_534+183insT	XP_006711592.1:n.534+182_534+183insT
XM_005245483.3:c.357+182_357+183insT	XP_005245540.1:n.357+182_357+183insT
XM_017002298.1:c.461+182_461+183insT	XP_016857787.1:n.461+182_461+183insT
XM_017002299.1:c.534+182_534+183insT	XP_016857788.1:n.534+182_534+183insT
NM_001297575.2:c.534+182_534+183insT	NP_001284504.1:n.534+182_534+183insT
NM_014625.4:c.534+182_534+183insT MANE Select	NP_055440.1:n.534+182_534+183insT