Canonical Allele Identifier: CA1210319095

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556662_179556665delinsGCTC , CM000663.2:g.179556662_179556665delinsGCTC	GRCh38
NC_000001.10:g.179525797_179525800delinsGCTC , CM000663.1:g.179525797_179525800delinsGCTC	GRCh37
NC_000001.9:g.177792420_177792423delinsGCTC	NCBI36
NG_007535.1:g.24285_24288delinsGAGC , LRG_887:g.24285_24288delinsGAGC
NG_033075.1:g.195943_195946delinsGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+362_738+365delinsGAGC MANE Select	ENSP00000356587.4:n.738+362_738+365delinsGAGC
ENST00000367615.8:c.738+362_738+365delinsGAGC	ENSP00000356587.4:n.738+362_738+365delinsGAGC
ENST00000367616.4:c.535-2134_535-2131delinsGAGC	ENSP00000356588.4:n.535-2134_535-2131delinsGAGC
NM_001297575.1:c.535-2134_535-2131delinsGAGC	NP_001284504.1:n.535-2134_535-2131delinsGAGC
NM_014625.3:c.738+362_738+365delinsGAGC , LRG_887t1:c.738+362_738+365delinsGAGC	NP_055440.1:n.738+362_738+365delinsGAGC
XM_005245483.2:c.561+362_561+365delinsGAGC	XP_005245540.1:n.561+362_561+365delinsGAGC
XM_006711529.2:c.738+362_738+365delinsGAGC	XP_006711592.1:n.738+362_738+365delinsGAGC
XM_005245483.3:c.561+362_561+365delinsGAGC	XP_005245540.1:n.561+362_561+365delinsGAGC
XM_017002298.1:c.461+3014_461+3017delinsGAGC	XP_016857787.1:n.461+3014_461+3017delinsGAGC
XM_017002299.1:c.534+3014_534+3017delinsGAGC	XP_016857788.1:n.534+3014_534+3017delinsGAGC
NM_001297575.2:c.535-2134_535-2131delinsGAGC	NP_001284504.1:n.535-2134_535-2131delinsGAGC
NM_014625.4:c.738+362_738+365delinsGAGC MANE Select	NP_055440.1:n.738+362_738+365delinsGAGC