Canonical Allele Identifier: CA2649317020

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575763-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575764_179575765dup , CM000663.2:g.179575764_179575765dup	GRCh38
NC_000001.10:g.179544899_179544900dup , CM000663.1:g.179544899_179544900dup	GRCh37
NC_000001.9:g.177811522_177811523dup	NCBI36
NG_007535.1:g.5185_5186dup , LRG_887:g.5185_5186dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.100_101dup MANE Select	ENSP00000356587.4:p.Gly35GlufsTer?
ENST00000367615.8:c.100_101dup	ENSP00000356587.4:p.Gly35GlufsTer?
ENST00000367616.4:c.100_101dup	ENSP00000356588.4:p.Gly35GlufsTer?
NM_001297575.1:c.100_101dup	NP_001284504.1:p.Gly35GlufsTer?
NM_014625.3:c.100_101dup , LRG_887t1:c.100_101dup	NP_055440.1:p.Gly35GlufsTer?
XM_005245483.2:c.100_101dup	XP_005245540.1:p.Gly35GlufsTer?
XM_006711529.2:c.100_101dup	XP_006711592.1:p.Gly35GlufsTer?
XM_005245483.3:c.100_101dup	XP_005245540.1:p.Gly35GlufsTer?
XM_017002298.1:c.100_101dup	XP_016857787.1:p.Gly35GlufsTer?
XM_017002299.1:c.100_101dup	XP_016857788.1:p.Gly35GlufsTer?
NM_001297575.2:c.100_101dup	NP_001284504.1:p.Gly35GlufsTer?
NM_014625.4:c.100_101dup MANE Select	NP_055440.1:p.Gly35GlufsTer?