Canonical Allele Identifier: CA2649317023

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575781-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575784del , CM000663.2:g.179575784del	GRCh38
NC_000001.10:g.179544919del , CM000663.1:g.179544919del	GRCh37
NC_000001.9:g.177811542del	NCBI36
NG_007535.1:g.5168del , LRG_887:g.5168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.83del MANE Select	ENSP00000356587.4:p.Lys28ArgfsTer?
ENST00000367615.8:c.83del	ENSP00000356587.4:p.Lys28ArgfsTer?
ENST00000367616.4:c.83del	ENSP00000356588.4:p.Lys28ArgfsTer?
NM_001297575.1:c.83del	NP_001284504.1:p.Lys28ArgfsTer?
NM_014625.3:c.83del , LRG_887t1:c.83del	NP_055440.1:p.Lys28ArgfsTer?
XM_005245483.2:c.83del	XP_005245540.1:p.Lys28ArgfsTer?
XM_006711529.2:c.83del	XP_006711592.1:p.Lys28ArgfsTer?
XM_005245483.3:c.83del	XP_005245540.1:p.Lys28ArgfsTer?
XM_017002298.1:c.83del	XP_016857787.1:p.Lys28ArgfsTer?
XM_017002299.1:c.83del	XP_016857788.1:p.Lys28ArgfsTer?
NM_001297575.2:c.83del	NP_001284504.1:p.Lys28ArgfsTer?
NM_014625.4:c.83del MANE Select	NP_055440.1:p.Lys28ArgfsTer?