Canonical Allele Identifier: CA2649315963

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559684-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559688del , CM000663.2:g.179559688del	GRCh38
NC_000001.10:g.179528823del , CM000663.1:g.179528823del	GRCh37
NC_000001.9:g.177795446del	NCBI36
NG_007535.1:g.21265del , LRG_887:g.21265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.528del MANE Select	ENSP00000356587.4:p.His177MetfsTer4
ENST00000367615.8:c.528del	ENSP00000356587.4:p.His177MetfsTer4
ENST00000367616.4:c.528del	ENSP00000356588.4:p.His177MetfsTer8
NM_001297575.1:c.528del	NP_001284504.1:p.His177MetfsTer8
NM_014625.3:c.528del , LRG_887t1:c.528del	NP_055440.1:p.His177MetfsTer4
XM_005245483.2:c.351del	XP_005245540.1:p.His118MetfsTer4
XM_006711529.2:c.528del	XP_006711592.1:p.His177MetfsTer4
XM_005245483.3:c.351del	XP_005245540.1:p.His118MetfsTer4
XM_017002298.1:c.455del	XP_016857787.1:p.Phe152SerfsTer2
XM_017002299.1:c.528del	XP_016857788.1:p.His177MetfsTer?
NM_001297575.2:c.528del	NP_001284504.1:p.His177MetfsTer8
NM_014625.4:c.528del MANE Select	NP_055440.1:p.His177MetfsTer4