Canonical Allele Identifier: CA1210326740
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575796_179575797delinsCT , CM000663.2:g.179575796_179575797delinsCT GRCh38
NC_000001.10:g.179544931_179544932delinsCT , CM000663.1:g.179544931_179544932delinsCT GRCh37
NC_000001.9:g.177811554_177811555delinsCT NCBI36
NG_007535.1:g.5153_5154delinsAG , LRG_887:g.5153_5154delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.68_69delinsAG MANE Select ENSP00000356587.4:p.Glu23=
ENST00000367615.8:c.68_69delinsAG ENSP00000356587.4:p.Glu23=
ENST00000367616.4:c.68_69delinsAG ENSP00000356588.4:p.Glu23=
NM_001297575.1:c.68_69delinsAG NP_001284504.1:p.Glu23=
NM_014625.3:c.68_69delinsAG , LRG_887t1:c.68_69delinsAG NP_055440.1:p.Glu23=
XM_005245483.2:c.68_69delinsAG XP_005245540.1:p.Glu23=
XM_006711529.2:c.68_69delinsAG XP_006711592.1:p.Glu23=
XM_005245483.3:c.68_69delinsAG XP_005245540.1:p.Glu23=
XM_017002298.1:c.68_69delinsAG XP_016857787.1:p.Glu23=
XM_017002299.1:c.68_69delinsAG XP_016857788.1:p.Glu23=
NM_001297575.2:c.68_69delinsAG NP_001284504.1:p.Glu23=
NM_014625.4:c.68_69delinsAG MANE Select NP_055440.1:p.Glu23=