Canonical Allele Identifier: CA645619650
Gene: NPHS1 HGNC NCBI

Linked Data

COSMIC: COSM313333

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849597_35849598delinsAT , CM000681.2:g.35849597_35849598delinsAT GRCh38
NC_000019.9:g.36340499_36340500delinsAT , CM000681.1:g.36340499_36340500delinsAT GRCh37
NC_000019.8:g.41032339_41032340delinsAT NCBI36
NG_013356.2:g.24690_24691delinsAT , LRG_693:g.24690_24691delinsAT
NG_051206.1:g.2963_2964delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.664_665delinsAT MANE Select ENSP00000368190.4:p.Pro222Ile
ENST00000353632.6:c.664_665delinsAT ENSP00000343634.5:p.Pro222Ile
ENST00000378910.9:c.664_665delinsAT ENSP00000368190.4:p.Pro222Ile
NM_004646.3:c.664_665delinsAT , LRG_693t1:c.664_665delinsAT NP_004637.1:p.Pro222Ile
NM_004646.4:c.664_665delinsAT MANE Select NP_004637.1:p.Pro222Ile