Canonical Allele Identifier: CA2576758941
Gene: NPHS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848309_35848321del , CM000681.2:g.35848309_35848321del GRCh38
NC_000019.9:g.36339211_36339223del , CM000681.1:g.36339211_36339223del GRCh37
NC_000019.8:g.41031051_41031063del NCBI36
NG_013356.2:g.25969_25981del , LRG_693:g.25969_25981del
NG_051206.1:g.1675_1687del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1249_1261del MANE Select ENSP00000368190.4:p.Cys417ValfsTer15
ENST00000353632.6:c.1249_1261del ENSP00000343634.5:p.Cys417ValfsTer15
ENST00000378910.9:c.1249_1261del ENSP00000368190.4:p.Cys417ValfsTer15
ENST00000592132.1:n.256_268del
NM_004646.3:c.1249_1261del , LRG_693t1:c.1249_1261del NP_004637.1:p.Cys417ValfsTer15
NM_004646.4:c.1249_1261del MANE Select NP_004637.1:p.Cys417ValfsTer15
Search 100 bp 5'
Search 100 bp 3'