Canonical Allele Identifier: CA1009659239
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1673937577

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179556556_179556557del , CM000663.2:g.179556556_179556557del GRCh38
NC_000001.10:g.179525691_179525692del , CM000663.1:g.179525691_179525692del GRCh37
NC_000001.9:g.177792314_177792315del NCBI36
NG_007535.1:g.24393_24394del , LRG_887:g.24393_24394del
NG_033075.1:g.195837_195838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.738+470_738+471del MANE Select ENSP00000356587.4:n.738+470_738+471del
ENST00000367615.8:c.738+470_738+471del ENSP00000356587.4:n.738+470_738+471del
ENST00000367616.4:c.535-2026_535-2025del ENSP00000356588.4:n.535-2026_535-2025del
NM_001297575.1:c.535-2026_535-2025del NP_001284504.1:n.535-2026_535-2025del
NM_014625.3:c.738+470_738+471del , LRG_887t1:c.738+470_738+471del NP_055440.1:n.738+470_738+471del
XM_005245483.2:c.561+470_561+471del XP_005245540.1:n.561+470_561+471del
XM_006711529.2:c.738+470_738+471del XP_006711592.1:n.738+470_738+471del
XM_005245483.3:c.561+470_561+471del XP_005245540.1:n.561+470_561+471del
XM_017002298.1:c.461+3122_461+3123del XP_016857787.1:n.461+3122_461+3123del
XM_017002299.1:c.534+3122_534+3123del XP_016857788.1:n.534+3122_534+3123del
NM_001297575.2:c.535-2026_535-2025del NP_001284504.1:n.535-2026_535-2025del
NM_014625.4:c.738+470_738+471del MANE Select NP_055440.1:n.738+470_738+471del