Canonical Allele Identifier: CA891819341

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561345del , CM000663.2:g.179561345del	GRCh38
NC_000001.10:g.179530480del , CM000663.1:g.179530480del	GRCh37
NC_000001.9:g.177797103del	NCBI36
NG_007535.1:g.19607del , LRG_887:g.19607del

Transcript Alleles

HGVS	Amino-acid Change
NM_014625.4:c.397del MANE Select	NP_055440.1:p.Arg133GlufsTer2
ENST00000367615.9:c.397del MANE Select	ENSP00000356587.4:p.Arg133GlufsTer2
NM_001297575.1:c.397del	NP_001284504.1:p.Arg133GlufsTer2
NM_001297575.2:c.397del	NP_001284504.1:p.Arg133GlufsTer2
NM_014625.3:c.397del , LRG_887t1:c.397del	NP_055440.1:p.Arg133GlufsTer2
ENST00000367615.8:c.397del	ENSP00000356587.4:p.Arg133GlufsTer2
ENST00000367616.4:c.397del	ENSP00000356588.4:p.Arg133GlufsTer2
XM_005245483.2:c.275-1582del	XP_005245540.1:n.275-1582del
XM_005245483.3:c.275-1582del	XP_005245540.1:n.275-1582del
XM_006711529.2:c.397del	XP_006711592.1:p.Arg133GlufsTer2
XM_017002298.1:c.379-1582del	XP_016857787.1:n.379-1582del
XM_017002299.1:c.397del	XP_016857788.1:p.Arg133GlufsTer2