Canonical Allele Identifier: CA891818048

Gene: NPHS2

Linked Data

• dbSNP Id: rs1264270464
• MyVariant Identifiers: chr1:g.179528619del (hg19) ; chr1:g.179559484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559486del , CM000663.2:g.179559486del	GRCh38
NC_000001.10:g.179528621del , CM000663.1:g.179528621del	GRCh37
NC_000001.9:g.177795244del	NCBI36
NG_007535.1:g.21466del , LRG_887:g.21466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.534+195del MANE Select	ENSP00000356587.4:n.534+195del
ENST00000367615.8:c.534+195del	ENSP00000356587.4:n.534+195del
ENST00000367616.4:c.534+195del	ENSP00000356588.4:n.534+195del
NM_001297575.1:c.534+195del	NP_001284504.1:n.534+195del
NM_014625.3:c.534+195del , LRG_887t1:c.534+195del	NP_055440.1:n.534+195del
XM_005245483.2:c.357+195del	XP_005245540.1:n.357+195del
XM_006711529.2:c.534+195del	XP_006711592.1:n.534+195del
XM_005245483.3:c.357+195del	XP_005245540.1:n.357+195del
XM_017002298.1:c.461+195del	XP_016857787.1:n.461+195del
XM_017002299.1:c.534+195del	XP_016857788.1:n.534+195del
NM_001297575.2:c.534+195del	NP_001284504.1:n.534+195del
NM_014625.4:c.534+195del MANE Select	NP_055440.1:n.534+195del