Canonical Allele Identifier: CA1210319042

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556558_179556560delinsATG , CM000663.2:g.179556558_179556560delinsATG	GRCh38
NC_000001.10:g.179525693_179525695delinsATG , CM000663.1:g.179525693_179525695delinsATG	GRCh37
NC_000001.9:g.177792316_177792318delinsATG	NCBI36
NG_007535.1:g.24390_24392delinsCAT , LRG_887:g.24390_24392delinsCAT
NG_033075.1:g.195839_195841delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+467_738+469delinsCAT MANE Select	ENSP00000356587.4:n.738+467_738+469delinsCAT
ENST00000367615.8:c.738+467_738+469delinsCAT	ENSP00000356587.4:n.738+467_738+469delinsCAT
ENST00000367616.4:c.535-2029_535-2027delinsCAT	ENSP00000356588.4:n.535-2029_535-2027delinsCAT
NM_001297575.1:c.535-2029_535-2027delinsCAT	NP_001284504.1:n.535-2029_535-2027delinsCAT
NM_014625.3:c.738+467_738+469delinsCAT , LRG_887t1:c.738+467_738+469delinsCAT	NP_055440.1:n.738+467_738+469delinsCAT
XM_005245483.2:c.561+467_561+469delinsCAT	XP_005245540.1:n.561+467_561+469delinsCAT
XM_006711529.2:c.738+467_738+469delinsCAT	XP_006711592.1:n.738+467_738+469delinsCAT
XM_005245483.3:c.561+467_561+469delinsCAT	XP_005245540.1:n.561+467_561+469delinsCAT
XM_017002298.1:c.461+3119_461+3121delinsCAT	XP_016857787.1:n.461+3119_461+3121delinsCAT
XM_017002299.1:c.534+3119_534+3121delinsCAT	XP_016857788.1:n.534+3119_534+3121delinsCAT
NM_001297575.2:c.535-2029_535-2027delinsCAT	NP_001284504.1:n.535-2029_535-2027delinsCAT
NM_014625.4:c.738+467_738+469delinsCAT MANE Select	NP_055440.1:n.738+467_738+469delinsCAT