Canonical Allele Identifier: CA1210322020

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564534_179564535delinsGT , CM000663.2:g.179564534_179564535delinsGT	GRCh38
NC_000001.10:g.179533669_179533670delinsGT , CM000663.1:g.179533669_179533670delinsGT	GRCh37
NC_000001.9:g.177800292_177800293delinsGT	NCBI36
NG_007535.1:g.16415_16416delinsAC , LRG_887:g.16415_16416delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.378+155_378+156delinsAC MANE Select	ENSP00000356587.4:n.378+155_378+156delinsAC
ENST00000367615.8:c.378+155_378+156delinsAC	ENSP00000356587.4:n.378+155_378+156delinsAC
ENST00000367616.4:c.378+155_378+156delinsAC	ENSP00000356588.4:n.378+155_378+156delinsAC
NM_001297575.1:c.378+155_378+156delinsAC	NP_001284504.1:n.378+155_378+156delinsAC
NM_014625.3:c.378+155_378+156delinsAC , LRG_887t1:c.378+155_378+156delinsAC	NP_055440.1:n.378+155_378+156delinsAC
XM_005245483.2:c.275-4774_275-4773delinsAC	XP_005245540.1:n.275-4774_275-4773delinsAC
XM_006711529.2:c.378+155_378+156delinsAC	XP_006711592.1:n.378+155_378+156delinsAC
XM_005245483.3:c.275-4774_275-4773delinsAC	XP_005245540.1:n.275-4774_275-4773delinsAC
XM_017002298.1:c.378+155_378+156delinsAC	XP_016857787.1:n.378+155_378+156delinsAC
XM_017002299.1:c.378+155_378+156delinsAC	XP_016857788.1:n.378+155_378+156delinsAC
NM_001297575.2:c.378+155_378+156delinsAC	NP_001284504.1:n.378+155_378+156delinsAC
NM_014625.4:c.378+155_378+156delinsAC MANE Select	NP_055440.1:n.378+155_378+156delinsAC