Canonical Allele Identifier: CA1210326649

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575635_179575638delinsCCCT , CM000663.2:g.179575635_179575638delinsCCCT	GRCh38
NC_000001.10:g.179544770_179544773delinsCCCT , CM000663.1:g.179544770_179544773delinsCCCT	GRCh37
NC_000001.9:g.177811393_177811396delinsCCCT	NCBI36
NG_007535.1:g.5312_5315delinsAGGG , LRG_887:g.5312_5315delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.227_230delinsAGGG MANE Select	ENSP00000356587.4:p.Glu76=
ENST00000367615.8:c.227_230delinsAGGG	ENSP00000356587.4:p.Glu76=
ENST00000367616.4:c.227_230delinsAGGG	ENSP00000356588.4:p.Glu76=
NM_001297575.1:c.227_230delinsAGGG	NP_001284504.1:p.Glu76=
NM_014625.3:c.227_230delinsAGGG , LRG_887t1:c.227_230delinsAGGG	NP_055440.1:p.Glu76=
XM_005245483.2:c.227_230delinsAGGG	XP_005245540.1:p.Glu76=
XM_006711529.2:c.227_230delinsAGGG	XP_006711592.1:p.Glu76=
XM_005245483.3:c.227_230delinsAGGG	XP_005245540.1:p.Glu76=
XM_017002298.1:c.227_230delinsAGGG	XP_016857787.1:p.Glu76=
XM_017002299.1:c.227_230delinsAGGG	XP_016857788.1:p.Glu76=
NM_001297575.2:c.227_230delinsAGGG	NP_001284504.1:p.Glu76=
NM_014625.4:c.227_230delinsAGGG MANE Select	NP_055440.1:p.Glu76=