Canonical Allele Identifier: CA1267291

Gene: NPHS2

Linked Data

• dbSNP Id: rs764794786
• ExAC: 1:179544770 CCCT / C
• gnomAD v2: 1-179544770-CCCT-C
• gnomAD v4: 1-179575635-CCCT-C
• MyVariant Identifiers: chr1:g.179544771_179544773del (hg19) ; chr1:g.179575636_179575638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575640_179575642del , CM000663.2:g.179575640_179575642del	GRCh38
NC_000001.10:g.179544775_179544777del , CM000663.1:g.179544775_179544777del	GRCh37
NC_000001.9:g.177811398_177811400del	NCBI36
NG_007535.1:g.5312_5314del , LRG_887:g.5312_5314del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.227_229del MANE Select	ENSP00000356587.4:p.Glu76del
ENST00000367615.8:c.227_229del	ENSP00000356587.4:p.Glu76del
ENST00000367616.4:c.227_229del	ENSP00000356588.4:p.Glu76del
NM_001297575.1:c.227_229del	NP_001284504.1:p.Glu76del
NM_014625.3:c.227_229del , LRG_887t1:c.227_229del	NP_055440.1:p.Glu76del
XM_005245483.2:c.227_229del	XP_005245540.1:p.Glu76del
XM_006711529.2:c.227_229del	XP_006711592.1:p.Glu76del
XM_005245483.3:c.227_229del	XP_005245540.1:p.Glu76del
XM_017002298.1:c.227_229del	XP_016857787.1:p.Glu76del
XM_017002299.1:c.227_229del	XP_016857788.1:p.Glu76del
NM_001297575.2:c.227_229del	NP_001284504.1:p.Glu76del
NM_014625.4:c.227_229del MANE Select	NP_055440.1:p.Glu76del