Canonical Allele Identifier: CA1210326593

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575518_179575519delinsAC , CM000663.2:g.179575518_179575519delinsAC	GRCh38
NC_000001.10:g.179544653_179544654delinsAC , CM000663.1:g.179544653_179544654delinsAC	GRCh37
NC_000001.9:g.177811276_177811277delinsAC	NCBI36
NG_007535.1:g.5431_5432delinsGT , LRG_887:g.5431_5432delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.274+72_274+73delinsGT MANE Select	ENSP00000356587.4:n.274+72_274+73delinsGT
ENST00000367615.8:c.274+72_274+73delinsGT	ENSP00000356587.4:n.274+72_274+73delinsGT
ENST00000367616.4:c.274+72_274+73delinsGT	ENSP00000356588.4:n.274+72_274+73delinsGT
NM_001297575.1:c.274+72_274+73delinsGT	NP_001284504.1:n.274+72_274+73delinsGT
NM_014625.3:c.274+72_274+73delinsGT , LRG_887t1:c.274+72_274+73delinsGT	NP_055440.1:n.274+72_274+73delinsGT
XM_005245483.2:c.274+72_274+73delinsGT	XP_005245540.1:n.274+72_274+73delinsGT
XM_006711529.2:c.274+72_274+73delinsGT	XP_006711592.1:n.274+72_274+73delinsGT
XM_005245483.3:c.274+72_274+73delinsGT	XP_005245540.1:n.274+72_274+73delinsGT
XM_017002298.1:c.274+72_274+73delinsGT	XP_016857787.1:n.274+72_274+73delinsGT
XM_017002299.1:c.274+72_274+73delinsGT	XP_016857788.1:n.274+72_274+73delinsGT
NM_001297575.2:c.274+72_274+73delinsGT	NP_001284504.1:n.274+72_274+73delinsGT
NM_014625.4:c.274+72_274+73delinsGT MANE Select	NP_055440.1:n.274+72_274+73delinsGT