Canonical Allele Identifier: CA2649315991

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559754-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559758del , CM000663.2:g.179559758del	GRCh38
NC_000001.10:g.179528893del , CM000663.1:g.179528893del	GRCh37
NC_000001.9:g.177795516del	NCBI36
NG_007535.1:g.21195del , LRG_887:g.21195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.458del MANE Select	ENSP00000356587.4:p.Phe153SerfsTer28
ENST00000367615.8:c.458del	ENSP00000356587.4:p.Phe153SerfsTer28
ENST00000367616.4:c.458del	ENSP00000356588.4:p.Phe153SerfsTer?
NM_001297575.1:c.458del	NP_001284504.1:p.Phe153SerfsTer?
NM_014625.3:c.458del , LRG_887t1:c.458del	NP_055440.1:p.Phe153SerfsTer28
XM_005245483.2:c.281del	XP_005245540.1:p.Phe94SerfsTer28
XM_006711529.2:c.458del	XP_006711592.1:p.Phe153SerfsTer28
XM_005245483.3:c.281del	XP_005245540.1:p.Phe94SerfsTer28
XM_017002298.1:c.385del	XP_016857787.1:p.Ser129LeufsTer13
XM_017002299.1:c.458del	XP_016857788.1:p.Phe153SerfsTer?
NM_001297575.2:c.458del	NP_001284504.1:p.Phe153SerfsTer?
NM_014625.4:c.458del MANE Select	NP_055440.1:p.Phe153SerfsTer28