Canonical Allele Identifier: CA1210320869
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561395_179561399delinsCAGAA , CM000663.2:g.179561395_179561399delinsCAGAA GRCh38
NC_000001.10:g.179530530_179530534delinsCAGAA , CM000663.1:g.179530530_179530534delinsCAGAA GRCh37
NC_000001.9:g.177797153_177797157delinsCAGAA NCBI36
NG_007535.1:g.19551_19555delinsTTCTG , LRG_887:g.19551_19555delinsTTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.379-38_379-34delinsTTCTG MANE Select ENSP00000356587.4:n.379-38_379-34delinsTTCTG
ENST00000367615.8:c.379-38_379-34delinsTTCTG ENSP00000356587.4:n.379-38_379-34delinsTTCTG
ENST00000367616.4:c.379-38_379-34delinsTTCTG ENSP00000356588.4:n.379-38_379-34delinsTTCTG
NM_001297575.1:c.379-38_379-34delinsTTCTG NP_001284504.1:n.379-38_379-34delinsTTCTG
NM_014625.3:c.379-38_379-34delinsTTCTG , LRG_887t1:c.379-38_379-34delinsTTCTG NP_055440.1:n.379-38_379-34delinsTTCTG
XM_005245483.2:c.275-1638_275-1634delinsTTCTG XP_005245540.1:n.275-1638_275-1634delinsTTCTG
XM_006711529.2:c.379-38_379-34delinsTTCTG XP_006711592.1:n.379-38_379-34delinsTTCTG
XM_005245483.3:c.275-1638_275-1634delinsTTCTG XP_005245540.1:n.275-1638_275-1634delinsTTCTG
XM_017002298.1:c.379-1638_379-1634delinsTTCTG XP_016857787.1:n.379-1638_379-1634delinsTTCTG
XM_017002299.1:c.379-38_379-34delinsTTCTG XP_016857788.1:n.379-38_379-34delinsTTCTG
NM_001297575.2:c.379-38_379-34delinsTTCTG NP_001284504.1:n.379-38_379-34delinsTTCTG
NM_014625.4:c.379-38_379-34delinsTTCTG MANE Select NP_055440.1:n.379-38_379-34delinsTTCTG