Canonical Allele Identifier: CA2649317018

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575759-G-GGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575762_179575763insCCCGCC , CM000663.2:g.179575762_179575763insCCCGCC	GRCh38
NC_000001.10:g.179544897_179544898insCCCGCC , CM000663.1:g.179544897_179544898insCCCGCC	GRCh37
NC_000001.9:g.177811520_177811521insCCCGCC	NCBI36
NG_007535.1:g.5190_5191insGGGGGC , LRG_887:g.5190_5191insGGGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.105_106insGGGGGC MANE Select	ENSP00000356587.4:p.Gly35_Arg36insGlyGly
ENST00000367615.8:c.105_106insGGGGGC	ENSP00000356587.4:p.Gly35_Arg36insGlyGly
ENST00000367616.4:c.105_106insGGGGGC	ENSP00000356588.4:p.Gly35_Arg36insGlyGly
NM_001297575.1:c.105_106insGGGGGC	NP_001284504.1:p.Gly35_Arg36insGlyGly
NM_014625.3:c.105_106insGGGGGC , LRG_887t1:c.105_106insGGGGGC	NP_055440.1:p.Gly35_Arg36insGlyGly
XM_005245483.2:c.105_106insGGGGGC	XP_005245540.1:p.Gly35_Arg36insGlyGly
XM_006711529.2:c.105_106insGGGGGC	XP_006711592.1:p.Gly35_Arg36insGlyGly
XM_005245483.3:c.105_106insGGGGGC	XP_005245540.1:p.Gly35_Arg36insGlyGly
XM_017002298.1:c.105_106insGGGGGC	XP_016857787.1:p.Gly35_Arg36insGlyGly
XM_017002299.1:c.105_106insGGGGGC	XP_016857788.1:p.Gly35_Arg36insGlyGly
NM_001297575.2:c.105_106insGGGGGC	NP_001284504.1:p.Gly35_Arg36insGlyGly
NM_014625.4:c.105_106insGGGGGC MANE Select	NP_055440.1:p.Gly35_Arg36insGlyGly