Canonical Allele Identifier: CA2580096895
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1725747
ClinVar RCV Id: RCV002309431
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850979del , CM000681.2:g.35850979del GRCh38
NC_000019.9:g.36341881del , CM000681.1:g.36341881del GRCh37
NC_000019.8:g.41033721del NCBI36
NG_013356.2:g.23309del , LRG_693:g.23309del
NG_051206.1:g.4345del

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.508del MANE Select ENSP00000368190.4:p.Asp170ThrfsTer6
ENST00000353632.6:c.508del ENSP00000343634.5:p.Asp170ThrfsTer6
ENST00000378910.9:c.508del ENSP00000368190.4:p.Asp170ThrfsTer6
NM_004646.3:c.508del , LRG_693t1:c.508del NP_004637.1:p.Asp170ThrfsTer6
NM_004646.4:c.508del MANE Select NP_004637.1:p.Asp170ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'