Canonical Allele Identifier: CA2584603397
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2677318
ClinVar RCV Id: RCV003471572

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848076del , CM000681.2:g.35848076del GRCh38
NC_000019.9:g.36338978del , CM000681.1:g.36338978del GRCh37
NC_000019.8:g.41030818del NCBI36
NG_013356.2:g.26216del , LRG_693:g.26216del
NG_051206.1:g.1442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1409del MANE Select ENSP00000368190.4:p.Gly470AlafsTer16
ENST00000353632.6:c.1409del ENSP00000343634.5:p.Gly470AlafsTer16
ENST00000378910.9:c.1409del ENSP00000368190.4:p.Gly470AlafsTer16
ENST00000592132.1:n.416del
NM_004646.3:c.1409del , LRG_693t1:c.1409del NP_004637.1:p.Gly470AlafsTer16
NM_004646.4:c.1409del MANE Select NP_004637.1:p.Gly470AlafsTer16