Canonical Allele Identifier: CA2739275421

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2886244
• ClinVar RCV Id: RCV003719839

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564672_179564697dup , CM000663.2:g.179564672_179564697dup	GRCh38
NC_000001.10:g.179533807_179533832dup , CM000663.1:g.179533807_179533832dup	GRCh37
NC_000001.9:g.177800430_177800455dup	NCBI36
NG_007535.1:g.16253_16278dup , LRG_887:g.16253_16278dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.371_378+18dup
ENST00000367615.8:c.371_378+18dup
ENST00000367616.4:c.371_378+18dup
NM_001297575.1:c.371_378+18dup
NM_014625.3:c.371_378+18dup , LRG_887t1:c.371_378+18dup
XM_005245483.2:c.275-4936_275-4911dup	XP_005245540.1:n.275-4936_275-4911dup
XM_006711529.2:c.371_378+18dup
XM_005245483.3:c.275-4936_275-4911dup	XP_005245540.1:n.275-4936_275-4911dup
XM_017002298.1:c.371_378+18dup
XM_017002299.1:c.371_378+18dup
NM_001297575.2:c.371_378+18dup
NM_014625.4:c.371_378+18dup