Canonical Allele Identifier: CA1009659273

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673943325
• gnomAD v3: 1-179556662-GCTC-G
• gnomAD v4: 1-179556662-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556665_179556667del , CM000663.2:g.179556665_179556667del	GRCh38
NC_000001.10:g.179525800_179525802del , CM000663.1:g.179525800_179525802del	GRCh37
NC_000001.9:g.177792423_177792425del	NCBI36
NG_007535.1:g.24285_24287del , LRG_887:g.24285_24287del
NG_033075.1:g.195946_195948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+362_738+364del MANE Select	ENSP00000356587.4:n.738+362_738+364del
ENST00000367615.8:c.738+362_738+364del	ENSP00000356587.4:n.738+362_738+364del
ENST00000367616.4:c.535-2134_535-2132del	ENSP00000356588.4:n.535-2134_535-2132del
NM_001297575.1:c.535-2134_535-2132del	NP_001284504.1:n.535-2134_535-2132del
NM_014625.3:c.738+362_738+364del , LRG_887t1:c.738+362_738+364del	NP_055440.1:n.738+362_738+364del
XM_005245483.2:c.561+362_561+364del	XP_005245540.1:n.561+362_561+364del
XM_006711529.2:c.738+362_738+364del	XP_006711592.1:n.738+362_738+364del
XM_005245483.3:c.561+362_561+364del	XP_005245540.1:n.561+362_561+364del
XM_017002298.1:c.461+3014_461+3016del	XP_016857787.1:n.461+3014_461+3016del
XM_017002299.1:c.534+3014_534+3016del	XP_016857788.1:n.534+3014_534+3016del
NM_001297575.2:c.535-2134_535-2132del	NP_001284504.1:n.535-2134_535-2132del
NM_014625.4:c.738+362_738+364del MANE Select	NP_055440.1:n.738+362_738+364del