Canonical Allele Identifier: CA1210320310

Gene: NPHS2

Linked Data

• dbSNP Id: rs1674067896

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559758_179559759insATAATGATATG , CM000663.2:g.179559758_179559759insATAATGATATG	GRCh38
NC_000001.10:g.179528893_179528894insATAATGATATG , CM000663.1:g.179528893_179528894insATAATGATATG	GRCh37
NC_000001.9:g.177795516_177795517insATAATGATATG	NCBI36
NG_007535.1:g.21191_21192insCATATCATTAT , LRG_887:g.21191_21192insCATATCATTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.454_455insCATATCATTAT MANE Select	ENSP00000356587.4:p.Leu152ProfsTer33
ENST00000367615.8:c.454_455insCATATCATTAT	ENSP00000356587.4:p.Leu152ProfsTer33
ENST00000367616.4:c.454_455insCATATCATTAT	ENSP00000356588.4:p.Leu152ProfsTer?
NM_001297575.1:c.454_455insCATATCATTAT	NP_001284504.1:p.Leu152ProfsTer?
NM_014625.3:c.454_455insCATATCATTAT , LRG_887t1:c.454_455insCATATCATTAT	NP_055440.1:p.Leu152ProfsTer33
XM_005245483.2:c.277_278insCATATCATTAT	XP_005245540.1:p.Leu93ProfsTer33
XM_006711529.2:c.454_455insCATATCATTAT	XP_006711592.1:p.Leu152ProfsTer33
XM_005245483.3:c.277_278insCATATCATTAT	XP_005245540.1:p.Leu93ProfsTer33
XM_017002298.1:c.381_382insCATATCATTAT	XP_016857787.1:p.Phe128HisfsTer18
XM_017002299.1:c.454_455insCATATCATTAT	XP_016857788.1:p.Leu152ProfsTer?
NM_001297575.2:c.454_455insCATATCATTAT	NP_001284504.1:p.Leu152ProfsTer?
NM_014625.4:c.454_455insCATATCATTAT MANE Select	NP_055440.1:p.Leu152ProfsTer33