Canonical Allele Identifier: CA1210319065

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556610_179556613delinsCTTA , CM000663.2:g.179556610_179556613delinsCTTA	GRCh38
NC_000001.10:g.179525745_179525748delinsCTTA , CM000663.1:g.179525745_179525748delinsCTTA	GRCh37
NC_000001.9:g.177792368_177792371delinsCTTA	NCBI36
NG_007535.1:g.24337_24340delinsTAAG , LRG_887:g.24337_24340delinsTAAG
NG_033075.1:g.195891_195894delinsCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+414_738+417delinsTAAG MANE Select	ENSP00000356587.4:n.738+414_738+417delinsTAAG
ENST00000367615.8:c.738+414_738+417delinsTAAG	ENSP00000356587.4:n.738+414_738+417delinsTAAG
ENST00000367616.4:c.535-2082_535-2079delinsTAAG	ENSP00000356588.4:n.535-2082_535-2079delinsTAAG
NM_001297575.1:c.535-2082_535-2079delinsTAAG	NP_001284504.1:n.535-2082_535-2079delinsTAAG
NM_014625.3:c.738+414_738+417delinsTAAG , LRG_887t1:c.738+414_738+417delinsTAAG	NP_055440.1:n.738+414_738+417delinsTAAG
XM_005245483.2:c.561+414_561+417delinsTAAG	XP_005245540.1:n.561+414_561+417delinsTAAG
XM_006711529.2:c.738+414_738+417delinsTAAG	XP_006711592.1:n.738+414_738+417delinsTAAG
XM_005245483.3:c.561+414_561+417delinsTAAG	XP_005245540.1:n.561+414_561+417delinsTAAG
XM_017002298.1:c.461+3066_461+3069delinsTAAG	XP_016857787.1:n.461+3066_461+3069delinsTAAG
XM_017002299.1:c.534+3066_534+3069delinsTAAG	XP_016857788.1:n.534+3066_534+3069delinsTAAG
NM_001297575.2:c.535-2082_535-2079delinsTAAG	NP_001284504.1:n.535-2082_535-2079delinsTAAG
NM_014625.4:c.738+414_738+417delinsTAAG MANE Select	NP_055440.1:n.738+414_738+417delinsTAAG