Canonical Allele Identifier: CA2580611213

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2504588
• ClinVar RCV Id: RCV003232046

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575731_179575744dup , CM000663.2:g.179575731_179575744dup	GRCh38
NC_000001.10:g.179544866_179544879dup , CM000663.1:g.179544866_179544879dup	GRCh37
NC_000001.9:g.177811489_177811502dup	NCBI36
NG_007535.1:g.5207_5220dup , LRG_887:g.5207_5220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.122_135dup MANE Select	ENSP00000356587.4:p.Ser46LeufsTer?
ENST00000367615.8:c.122_135dup	ENSP00000356587.4:p.Ser46LeufsTer?
ENST00000367616.4:c.122_135dup	ENSP00000356588.4:p.Ser46LeufsTer?
NM_001297575.1:c.122_135dup	NP_001284504.1:p.Ser46LeufsTer?
NM_014625.3:c.122_135dup , LRG_887t1:c.122_135dup	NP_055440.1:p.Ser46LeufsTer?
XM_005245483.2:c.122_135dup	XP_005245540.1:p.Ser46LeufsTer?
XM_006711529.2:c.122_135dup	XP_006711592.1:p.Ser46LeufsTer?
XM_005245483.3:c.122_135dup	XP_005245540.1:p.Ser46LeufsTer?
XM_017002298.1:c.122_135dup	XP_016857787.1:p.Ser46LeufsTer?
XM_017002299.1:c.122_135dup	XP_016857788.1:p.Ser46LeufsTer?
NM_001297575.2:c.122_135dup	NP_001284504.1:p.Ser46LeufsTer?
NM_014625.4:c.122_135dup MANE Select	NP_055440.1:p.Ser46LeufsTer?