Canonical Allele Identifier: CA2697554701

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2751347
• ClinVar RCV Id: RCV003563890

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564672del , CM000663.2:g.179564672del	GRCh38
NC_000001.10:g.179533807del , CM000663.1:g.179533807del	GRCh37
NC_000001.9:g.177800430del	NCBI36
NG_007535.1:g.16280del , LRG_887:g.16280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.378+20del MANE Select	ENSP00000356587.4:n.378+20del
ENST00000367615.8:c.378+20del	ENSP00000356587.4:n.378+20del
ENST00000367616.4:c.378+20del	ENSP00000356588.4:n.378+20del
NM_001297575.1:c.378+20del	NP_001284504.1:n.378+20del
NM_014625.3:c.378+20del , LRG_887t1:c.378+20del	NP_055440.1:n.378+20del
XM_005245483.2:c.275-4909del	XP_005245540.1:n.275-4909del
XM_006711529.2:c.378+20del	XP_006711592.1:n.378+20del
XM_005245483.3:c.275-4909del	XP_005245540.1:n.275-4909del
XM_017002298.1:c.378+20del	XP_016857787.1:n.378+20del
XM_017002299.1:c.378+20del	XP_016857788.1:n.378+20del
NM_001297575.2:c.378+20del	NP_001284504.1:n.378+20del
NM_014625.4:c.378+20del MANE Select	NP_055440.1:n.378+20del