Canonical Allele Identifier: CA1210321923

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564303_179564309delinsACATAAT , CM000663.2:g.179564303_179564309delinsACATAAT	GRCh38
NC_000001.10:g.179533438_179533444delinsACATAAT , CM000663.1:g.179533438_179533444delinsACATAAT	GRCh37
NC_000001.9:g.177800061_177800067delinsACATAAT	NCBI36
NG_007535.1:g.16641_16647delinsATTATGT , LRG_887:g.16641_16647delinsATTATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.378+381_378+387delinsATTATGT MANE Select	ENSP00000356587.4:n.378+381_378+387delinsATTATGT
ENST00000367615.8:c.378+381_378+387delinsATTATGT	ENSP00000356587.4:n.378+381_378+387delinsATTATGT
ENST00000367616.4:c.378+381_378+387delinsATTATGT	ENSP00000356588.4:n.378+381_378+387delinsATTATGT
NM_001297575.1:c.378+381_378+387delinsATTATGT	NP_001284504.1:n.378+381_378+387delinsATTATGT
NM_014625.3:c.378+381_378+387delinsATTATGT , LRG_887t1:c.378+381_378+387delinsATTATGT	NP_055440.1:n.378+381_378+387delinsATTATGT
XM_005245483.2:c.275-4548_275-4542delinsATTATGT	XP_005245540.1:n.275-4548_275-4542delinsATTATGT
XM_006711529.2:c.378+381_378+387delinsATTATGT	XP_006711592.1:n.378+381_378+387delinsATTATGT
XM_005245483.3:c.275-4548_275-4542delinsATTATGT	XP_005245540.1:n.275-4548_275-4542delinsATTATGT
XM_017002298.1:c.378+381_378+387delinsATTATGT	XP_016857787.1:n.378+381_378+387delinsATTATGT
XM_017002299.1:c.378+381_378+387delinsATTATGT	XP_016857788.1:n.378+381_378+387delinsATTATGT
NM_001297575.2:c.378+381_378+387delinsATTATGT	NP_001284504.1:n.378+381_378+387delinsATTATGT
NM_014625.4:c.378+381_378+387delinsATTATGT MANE Select	NP_055440.1:n.378+381_378+387delinsATTATGT