Canonical Allele Identifier: CA658822855

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 557597
• ClinVar RCV Id: RCV000673758
• dbSNP Id: rs1553316575
• MyVariant Identifiers: chr1:g.179575616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575616del , CM000663.2:g.179575616del	GRCh38
NC_000001.10:g.179544751del , CM000663.1:g.179544751del	GRCh37
NC_000001.9:g.177811374del	NCBI36
NG_007535.1:g.5334del , LRG_887:g.5334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.249del MANE Select	ENSP00000356587.4:p.Leu84TrpfsTer15
ENST00000367615.8:c.249del	ENSP00000356587.4:p.Leu84TrpfsTer15
ENST00000367616.4:c.249del	ENSP00000356588.4:p.Leu84TrpfsTer15
NM_001297575.1:c.249del	NP_001284504.1:p.Leu84TrpfsTer15
NM_014625.3:c.249del , LRG_887t1:c.249del	NP_055440.1:p.Leu84TrpfsTer15
XM_005245483.2:c.249del	XP_005245540.1:p.Leu84TrpfsTer?
XM_006711529.2:c.249del	XP_006711592.1:p.Leu84TrpfsTer15
XM_005245483.3:c.249del	XP_005245540.1:p.Leu84TrpfsTer?
XM_017002298.1:c.249del	XP_016857787.1:p.Leu84TrpfsTer15
XM_017002299.1:c.249del	XP_016857788.1:p.Leu84TrpfsTer15
NM_001297575.2:c.249del	NP_001284504.1:p.Leu84TrpfsTer15
NM_014625.4:c.249del MANE Select	NP_055440.1:p.Leu84TrpfsTer15