Canonical Allele Identifier: CA2580061520

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2091205
• ClinVar RCV Id: RCV003013494

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575711_179575819del , CM000663.2:g.179575711_179575819del	GRCh38
NC_000001.10:g.179544846_179544954del , CM000663.1:g.179544846_179544954del	GRCh37
NC_000001.9:g.177811469_177811577del	NCBI36
NG_007535.1:g.5133_5241del , LRG_887:g.5133_5241del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.48_156del MANE Select	ENSP00000356587.4:p.Gly17ProfsTer?
ENST00000367615.8:c.48_156del	ENSP00000356587.4:p.Gly17ProfsTer?
ENST00000367616.4:c.48_156del	ENSP00000356588.4:p.Gly17ProfsTer?
NM_001297575.1:c.48_156del	NP_001284504.1:p.Gly17ProfsTer?
NM_014625.3:c.48_156del , LRG_887t1:c.48_156del	NP_055440.1:p.Gly17ProfsTer?
XM_005245483.2:c.48_156del	XP_005245540.1:p.Gly17ProfsTer?
XM_006711529.2:c.48_156del	XP_006711592.1:p.Gly17ProfsTer?
XM_005245483.3:c.48_156del	XP_005245540.1:p.Gly17ProfsTer?
XM_017002298.1:c.48_156del	XP_016857787.1:p.Gly17ProfsTer?
XM_017002299.1:c.48_156del	XP_016857788.1:p.Gly17ProfsTer?
NM_001297575.2:c.48_156del	NP_001284504.1:p.Gly17ProfsTer?
NM_014625.4:c.48_156del MANE Select	NP_055440.1:p.Gly17ProfsTer?