Canonical Allele Identifier: CA16041979
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370986
ClinVar RCV Id: RCV000409779
dbSNP Id: rs1057516918

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848114del , CM000681.2:g.35848114del GRCh38
NC_000019.9:g.36339016del , CM000681.1:g.36339016del GRCh37
NC_000019.8:g.41030856del NCBI36
NG_013356.2:g.26176del , LRG_693:g.26176del
NG_051206.1:g.1480del

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.1369del MANE Select ENSP00000368190.4:p.Ala457LeufsTer5
ENST00000353632.6:c.1369del ENSP00000343634.5:p.Ala457LeufsTer5
ENST00000378910.9:c.1369del ENSP00000368190.4:p.Ala457LeufsTer5
ENST00000592132.1:n.376del
NM_004646.3:c.1369del , LRG_693t1:c.1369del NP_004637.1:p.Ala457LeufsTer5
NM_004646.4:c.1369del MANE Select NP_004637.1:p.Ala457LeufsTer5