Canonical Allele Identifier: CA915941910

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 807638
• ClinVar RCV Id: RCV000995818
• dbSNP Id: rs1572277600

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557189_179557190del , CM000663.2:g.179557189_179557190del	GRCh38
NC_000001.10:g.179526324_179526325del , CM000663.1:g.179526324_179526325del	GRCh37
NC_000001.9:g.177792947_177792948del	NCBI36
NG_007535.1:g.23761_23762del , LRG_887:g.23761_23762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.576_577del MANE Select	ENSP00000356587.4:p.Ile192MetfsTer20
ENST00000367615.8:c.576_577del	ENSP00000356587.4:p.Ile192MetfsTer20
ENST00000367616.4:c.534+2490_534+2491del	ENSP00000356588.4:n.534+2490_534+2491del
NM_001297575.1:c.534+2490_534+2491del	NP_001284504.1:n.534+2490_534+2491del
NM_014625.3:c.576_577del , LRG_887t1:c.576_577del	NP_055440.1:p.Ile192MetfsTer20
XM_005245483.2:c.399_400del	XP_005245540.1:p.Ile133MetfsTer20
XM_006711529.2:c.576_577del	XP_006711592.1:p.Ile192MetfsTer20
XM_005245483.3:c.399_400del	XP_005245540.1:p.Ile133MetfsTer20
XM_017002298.1:c.461+2490_461+2491del	XP_016857787.1:n.461+2490_461+2491del
XM_017002299.1:c.534+2490_534+2491del	XP_016857788.1:n.534+2490_534+2491del
NM_001297575.2:c.534+2490_534+2491del	NP_001284504.1:n.534+2490_534+2491del
NM_014625.4:c.576_577del MANE Select	NP_055440.1:p.Ile192MetfsTer20