Canonical Allele Identifier: CA2586967785

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559689_179559691delinsACA , CM000663.2:g.179559689_179559691delinsACA	GRCh38
NC_000001.10:g.179528824_179528826delinsACA , CM000663.1:g.179528824_179528826delinsACA	GRCh37
NC_000001.9:g.177795447_177795449delinsACA	NCBI36
NG_007535.1:g.21259_21261delinsTGT , LRG_887:g.21259_21261delinsTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.522_524delinsTGT MANE Select	ENSP00000356587.4:p.Pro175Val
ENST00000367615.8:c.522_524delinsTGT	ENSP00000356587.4:p.Pro175Val
ENST00000367616.4:c.522_524delinsTGT	ENSP00000356588.4:p.Pro175Val
NM_001297575.1:c.522_524delinsTGT	NP_001284504.1:p.Pro175Val
NM_014625.3:c.522_524delinsTGT , LRG_887t1:c.522_524delinsTGT	NP_055440.1:p.Pro175Val
XM_005245483.2:c.345_347delinsTGT	XP_005245540.1:p.Pro116Val
XM_006711529.2:c.522_524delinsTGT	XP_006711592.1:p.Pro175Val
XM_005245483.3:c.345_347delinsTGT	XP_005245540.1:p.Pro116Val
XM_017002298.1:c.449_451delinsTGT	XP_016857787.1:p.Tyr150_Leu151delinsLeuPhe
XM_017002299.1:c.522_524delinsTGT	XP_016857788.1:p.Pro175Val
NM_001297575.2:c.522_524delinsTGT	NP_001284504.1:p.Pro175Val
NM_014625.4:c.522_524delinsTGT MANE Select	NP_055440.1:p.Pro175Val