Canonical Allele Identifier: CA1210319037

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673937084

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556554del , CM000663.2:g.179556554del	GRCh38
NC_000001.10:g.179525689del , CM000663.1:g.179525689del	GRCh37
NC_000001.9:g.177792312del	NCBI36
NG_007535.1:g.24396del , LRG_887:g.24396del
NG_033075.1:g.195835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+473del MANE Select	ENSP00000356587.4:n.738+473del
ENST00000367615.8:c.738+473del	ENSP00000356587.4:n.738+473del
ENST00000367616.4:c.535-2023del	ENSP00000356588.4:n.535-2023del
NM_001297575.1:c.535-2023del	NP_001284504.1:n.535-2023del
NM_014625.3:c.738+473del , LRG_887t1:c.738+473del	NP_055440.1:n.738+473del
XM_005245483.2:c.561+473del	XP_005245540.1:n.561+473del
XM_006711529.2:c.738+473del	XP_006711592.1:n.738+473del
XM_005245483.3:c.561+473del	XP_005245540.1:n.561+473del
XM_017002298.1:c.461+3125del	XP_016857787.1:n.461+3125del
XM_017002299.1:c.534+3125del	XP_016857788.1:n.534+3125del
NM_001297575.2:c.535-2023del	NP_001284504.1:n.535-2023del
NM_014625.4:c.738+473del MANE Select	NP_055440.1:n.738+473del