Canonical Allele Identifier: CA1210319039

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556555_179556557delinsATC , CM000663.2:g.179556555_179556557delinsATC	GRCh38
NC_000001.10:g.179525690_179525692delinsATC , CM000663.1:g.179525690_179525692delinsATC	GRCh37
NC_000001.9:g.177792313_177792315delinsATC	NCBI36
NG_007535.1:g.24393_24395delinsGAT , LRG_887:g.24393_24395delinsGAT
NG_033075.1:g.195836_195838delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+470_738+472delinsGAT MANE Select	ENSP00000356587.4:n.738+470_738+472delinsGAT
ENST00000367615.8:c.738+470_738+472delinsGAT	ENSP00000356587.4:n.738+470_738+472delinsGAT
ENST00000367616.4:c.535-2026_535-2024delinsGAT	ENSP00000356588.4:n.535-2026_535-2024delinsGAT
NM_001297575.1:c.535-2026_535-2024delinsGAT	NP_001284504.1:n.535-2026_535-2024delinsGAT
NM_014625.3:c.738+470_738+472delinsGAT , LRG_887t1:c.738+470_738+472delinsGAT	NP_055440.1:n.738+470_738+472delinsGAT
XM_005245483.2:c.561+470_561+472delinsGAT	XP_005245540.1:n.561+470_561+472delinsGAT
XM_006711529.2:c.738+470_738+472delinsGAT	XP_006711592.1:n.738+470_738+472delinsGAT
XM_005245483.3:c.561+470_561+472delinsGAT	XP_005245540.1:n.561+470_561+472delinsGAT
XM_017002298.1:c.461+3122_461+3124delinsGAT	XP_016857787.1:n.461+3122_461+3124delinsGAT
XM_017002299.1:c.534+3122_534+3124delinsGAT	XP_016857788.1:n.534+3122_534+3124delinsGAT
NM_001297575.2:c.535-2026_535-2024delinsGAT	NP_001284504.1:n.535-2026_535-2024delinsGAT
NM_014625.4:c.738+470_738+472delinsGAT MANE Select	NP_055440.1:n.738+470_738+472delinsGAT