Canonical Allele Identifier: CA2521309331
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559929_179559935del , CM000663.2:g.179559929_179559935del GRCh38
NC_000001.10:g.179529064_179529070del , CM000663.1:g.179529064_179529070del GRCh37
NC_000001.9:g.177795687_177795693del NCBI36
NG_007535.1:g.21022_21028del , LRG_887:g.21022_21028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.452-167_452-161del MANE Select ENSP00000356587.4:n.452-167_452-161del
ENST00000367615.8:c.452-167_452-161del ENSP00000356587.4:n.452-167_452-161del
ENST00000367616.4:c.452-167_452-161del ENSP00000356588.4:n.452-167_452-161del
NM_001297575.1:c.452-167_452-161del NP_001284504.1:n.452-167_452-161del
NM_014625.3:c.452-167_452-161del , LRG_887t1:c.452-167_452-161del NP_055440.1:n.452-167_452-161del
XM_005245483.2:c.275-167_275-161del XP_005245540.1:n.275-167_275-161del
XM_006711529.2:c.452-167_452-161del XP_006711592.1:n.452-167_452-161del
XM_005245483.3:c.275-167_275-161del XP_005245540.1:n.275-167_275-161del
XM_017002298.1:c.379-167_379-161del XP_016857787.1:n.379-167_379-161del
XM_017002299.1:c.452-167_452-161del XP_016857788.1:n.452-167_452-161del
NM_001297575.2:c.452-167_452-161del NP_001284504.1:n.452-167_452-161del
NM_014625.4:c.452-167_452-161del MANE Select NP_055440.1:n.452-167_452-161del