Canonical Allele Identifier: CA2580061530

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2025352
• ClinVar RCV Id: RCV002880514

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557090del , CM000663.2:g.179557090del	GRCh38
NC_000001.10:g.179526225del , CM000663.1:g.179526225del	GRCh37
NC_000001.9:g.177792848del	NCBI36
NG_007535.1:g.23861del , LRG_887:g.23861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.676del MANE Select	ENSP00000356587.4:p.Leu226Ter
ENST00000367615.8:c.676del	ENSP00000356587.4:p.Leu226Ter
ENST00000367616.4:c.535-2558del	ENSP00000356588.4:n.535-2558del
NM_001297575.1:c.535-2558del	NP_001284504.1:n.535-2558del
NM_014625.3:c.676del , LRG_887t1:c.676del	NP_055440.1:p.Leu226Ter
XM_005245483.2:c.499del	XP_005245540.1:p.Leu167Ter
XM_006711529.2:c.676del	XP_006711592.1:p.Leu226Ter
XM_005245483.3:c.499del	XP_005245540.1:p.Leu167Ter
XM_017002298.1:c.461+2590del	XP_016857787.1:n.461+2590del
XM_017002299.1:c.534+2590del	XP_016857788.1:n.534+2590del
NM_001297575.2:c.535-2558del	NP_001284504.1:n.535-2558del
NM_014625.4:c.676del MANE Select	NP_055440.1:p.Leu226Ter