Canonical Allele Identifier: CA2649316806

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179564760-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564761del , CM000663.2:g.179564761del	GRCh38
NC_000001.10:g.179533896del , CM000663.1:g.179533896del	GRCh37
NC_000001.9:g.177800519del	NCBI36
NG_007535.1:g.16189del , LRG_887:g.16189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.307del MANE Select	ENSP00000356587.4:p.Trp103GlyfsTer13
ENST00000367615.8:c.307del	ENSP00000356587.4:p.Trp103GlyfsTer13
ENST00000367616.4:c.307del	ENSP00000356588.4:p.Trp103GlyfsTer13
NM_001297575.1:c.307del	NP_001284504.1:p.Trp103GlyfsTer13
NM_014625.3:c.307del , LRG_887t1:c.307del	NP_055440.1:p.Trp103GlyfsTer13
XM_005245483.2:c.275-5000del	XP_005245540.1:n.275-5000del
XM_006711529.2:c.307del	XP_006711592.1:p.Trp103GlyfsTer13
XM_005245483.3:c.275-5000del	XP_005245540.1:n.275-5000del
XM_017002298.1:c.307del	XP_016857787.1:p.Trp103GlyfsTer13
XM_017002299.1:c.307del	XP_016857788.1:p.Trp103GlyfsTer13
NM_001297575.2:c.307del	NP_001284504.1:p.Trp103GlyfsTer13
NM_014625.4:c.307del MANE Select	NP_055440.1:p.Trp103GlyfsTer13