Canonical Allele Identifier: CA1210320841
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561320_179561321delinsTC , CM000663.2:g.179561320_179561321delinsTC GRCh38
NC_000001.10:g.179530455_179530456delinsTC , CM000663.1:g.179530455_179530456delinsTC GRCh37
NC_000001.9:g.177797078_177797079delinsTC NCBI36
NG_007535.1:g.19629_19630delinsGA , LRG_887:g.19629_19630delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.419_420delinsGA MANE Select ENSP00000356587.4:p.Gly140=
ENST00000367615.8:c.419_420delinsGA ENSP00000356587.4:p.Gly140=
ENST00000367616.4:c.419_420delinsGA ENSP00000356588.4:p.Gly140=
NM_001297575.1:c.419_420delinsGA NP_001284504.1:p.Gly140=
NM_014625.3:c.419_420delinsGA , LRG_887t1:c.419_420delinsGA NP_055440.1:p.Gly140=
XM_005245483.2:c.275-1560_275-1559delinsGA XP_005245540.1:n.275-1560_275-1559delinsGA
XM_006711529.2:c.419_420delinsGA XP_006711592.1:p.Gly140=
XM_005245483.3:c.275-1560_275-1559delinsGA XP_005245540.1:n.275-1560_275-1559delinsGA
XM_017002298.1:c.379-1560_379-1559delinsGA XP_016857787.1:n.379-1560_379-1559delinsGA
XM_017002299.1:c.419_420delinsGA XP_016857788.1:p.Gly140=
NM_001297575.2:c.419_420delinsGA NP_001284504.1:p.Gly140=
NM_014625.4:c.419_420delinsGA MANE Select NP_055440.1:p.Gly140=