Canonical Allele Identifier: CA2573957644

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564742dup , CM000663.2:g.179564742dup	GRCh38
NC_000001.10:g.179533877dup , CM000663.1:g.179533877dup	GRCh37
NC_000001.9:g.177800500dup	NCBI36
NG_007535.1:g.16210dup , LRG_887:g.16210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.328dup MANE Select	ENSP00000356587.4:p.Leu110ProfsTer23
ENST00000367615.8:c.328dup	ENSP00000356587.4:p.Leu110ProfsTer23
ENST00000367616.4:c.328dup	ENSP00000356588.4:p.Leu110ProfsTer23
NM_001297575.1:c.328dup	NP_001284504.1:p.Leu110ProfsTer23
NM_014625.3:c.328dup , LRG_887t1:c.328dup	NP_055440.1:p.Leu110ProfsTer23
XM_005245483.2:c.275-4979dup	XP_005245540.1:n.275-4979dup
XM_006711529.2:c.328dup	XP_006711592.1:p.Leu110ProfsTer23
XM_005245483.3:c.275-4979dup	XP_005245540.1:n.275-4979dup
XM_017002298.1:c.328dup	XP_016857787.1:p.Leu110ProfsTer?
XM_017002299.1:c.328dup	XP_016857788.1:p.Leu110ProfsTer23
NM_001297575.2:c.328dup	NP_001284504.1:p.Leu110ProfsTer23
NM_014625.4:c.328dup MANE Select	NP_055440.1:p.Leu110ProfsTer23