Canonical Allele Identifier: CA2697554705

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2763592
• ClinVar RCV Id: RCV003565168

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575572_179575574del , CM000663.2:g.179575572_179575574del	GRCh38
NC_000001.10:g.179544707_179544709del , CM000663.1:g.179544707_179544709del	GRCh37
NC_000001.9:g.177811330_177811332del	NCBI36
NG_007535.1:g.5377_5379del , LRG_887:g.5377_5379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.274+18_274+20del MANE Select	ENSP00000356587.4:n.274+18_274+20del
ENST00000367615.8:c.274+18_274+20del	ENSP00000356587.4:n.274+18_274+20del
ENST00000367616.4:c.274+18_274+20del	ENSP00000356588.4:n.274+18_274+20del
NM_001297575.1:c.274+18_274+20del	NP_001284504.1:n.274+18_274+20del
NM_014625.3:c.274+18_274+20del , LRG_887t1:c.274+18_274+20del	NP_055440.1:n.274+18_274+20del
XM_005245483.2:c.274+18_274+20del	XP_005245540.1:n.274+18_274+20del
XM_006711529.2:c.274+18_274+20del	XP_006711592.1:n.274+18_274+20del
XM_005245483.3:c.274+18_274+20del	XP_005245540.1:n.274+18_274+20del
XM_017002298.1:c.274+18_274+20del	XP_016857787.1:n.274+18_274+20del
XM_017002299.1:c.274+18_274+20del	XP_016857788.1:n.274+18_274+20del
NM_001297575.2:c.274+18_274+20del	NP_001284504.1:n.274+18_274+20del
NM_014625.4:c.274+18_274+20del MANE Select	NP_055440.1:n.274+18_274+20del