Canonical Allele Identifier: CA2555142581

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564752_179564753insCCAATAGGT , CM000663.2:g.179564752_179564753insCCAATAGGT	GRCh38
NC_000001.10:g.179533887_179533888insCCAATAGGT , CM000663.1:g.179533887_179533888insCCAATAGGT	GRCh37
NC_000001.9:g.177800510_177800511insCCAATAGGT	NCBI36
NG_007535.1:g.16197_16198insACCTATTGG , LRG_887:g.16197_16198insACCTATTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.315_316insACCTATTGG MANE Select	ENSP00000356587.4:p.Leu105_Val106insThrTy...
ENST00000367615.8:c.315_316insACCTATTGG	ENSP00000356587.4:p.Leu105_Val106insThrTy...
ENST00000367616.4:c.315_316insACCTATTGG	ENSP00000356588.4:p.Leu105_Val106insThrTy...
NM_001297575.1:c.315_316insACCTATTGG	NP_001284504.1:p.Leu105_Val106insThrTyrTr...
NM_014625.3:c.315_316insACCTATTGG , LRG_887t1:c.315_316insACCTATTGG	NP_055440.1:p.Leu105_Val106insThrTyrTrp
XM_005245483.2:c.275-4992_275-4991insACCTATTGG	XP_005245540.1:n.275-4992_275-4991insACCT...
XM_006711529.2:c.315_316insACCTATTGG	XP_006711592.1:p.Leu105_Val106insThrTyrTr...
XM_005245483.3:c.275-4992_275-4991insACCTATTGG	XP_005245540.1:n.275-4992_275-4991insACCT...
XM_017002298.1:c.315_316insACCTATTGG	XP_016857787.1:p.Leu105_Val106insThrTyrTr...
XM_017002299.1:c.315_316insACCTATTGG	XP_016857788.1:p.Leu105_Val106insThrTyrTr...
NM_001297575.2:c.315_316insACCTATTGG	NP_001284504.1:p.Leu105_Val106insThrTyrTr...
NM_014625.4:c.315_316insACCTATTGG MANE Select	NP_055440.1:p.Leu105_Val106insThrTyrTrp