Canonical Allele Identifier: CA2649317005

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575668-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575670del , CM000663.2:g.179575670del	GRCh38
NC_000001.10:g.179544805del , CM000663.1:g.179544805del	GRCh37
NC_000001.9:g.177811428del	NCBI36
NG_007535.1:g.5281del , LRG_887:g.5281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.196del MANE Select	ENSP00000356587.4:p.Asp66ThrfsTer?
ENST00000367615.8:c.196del	ENSP00000356587.4:p.Asp66ThrfsTer?
ENST00000367616.4:c.196del	ENSP00000356588.4:p.Asp66ThrfsTer?
NM_001297575.1:c.196del	NP_001284504.1:p.Asp66ThrfsTer?
NM_014625.3:c.196del , LRG_887t1:c.196del	NP_055440.1:p.Asp66ThrfsTer?
XM_005245483.2:c.196del	XP_005245540.1:p.Asp66ThrfsTer?
XM_006711529.2:c.196del	XP_006711592.1:p.Asp66ThrfsTer?
XM_005245483.3:c.196del	XP_005245540.1:p.Asp66ThrfsTer?
XM_017002298.1:c.196del	XP_016857787.1:p.Asp66ThrfsTer?
XM_017002299.1:c.196del	XP_016857788.1:p.Asp66ThrfsTer?
NM_001297575.2:c.196del	NP_001284504.1:p.Asp66ThrfsTer?
NM_014625.4:c.196del MANE Select	NP_055440.1:p.Asp66ThrfsTer?