Canonical Allele Identifier: CA2697825840

Gene: NPHS2

Linked Data

• dbSNP Id: rs2125790120

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564714del , CM000663.2:g.179564714del	GRCh38
NC_000001.10:g.179533849del , CM000663.1:g.179533849del	GRCh37
NC_000001.9:g.177800472del	NCBI36
NG_007535.1:g.16240del , LRG_887:g.16240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.358del MANE Select	ENSP00000356587.4:p.Ser120ProfsTer6
ENST00000367615.8:c.358del	ENSP00000356587.4:p.Ser120ProfsTer6
ENST00000367616.4:c.358del	ENSP00000356588.4:p.Ser120ProfsTer6
NM_001297575.1:c.358del	NP_001284504.1:p.Ser120ProfsTer6
NM_014625.3:c.358del , LRG_887t1:c.358del	NP_055440.1:p.Ser120ProfsTer6
XM_005245483.2:c.275-4949del	XP_005245540.1:n.275-4949del
XM_006711529.2:c.358del	XP_006711592.1:p.Ser120ProfsTer6
XM_005245483.3:c.275-4949del	XP_005245540.1:n.275-4949del
XM_017002298.1:c.358del	XP_016857787.1:p.Ser120ProfsTer6
XM_017002299.1:c.358del	XP_016857788.1:p.Ser120ProfsTer6
NM_001297575.2:c.358del	NP_001284504.1:p.Ser120ProfsTer6
NM_014625.4:c.358del MANE Select	NP_055440.1:p.Ser120ProfsTer6