Canonical Allele Identifier: CA2839075541
Gene: NPHS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849571dup , CM000681.2:g.35849571dup GRCh38
NC_000019.9:g.36340473dup , CM000681.1:g.36340473dup GRCh37
NC_000019.8:g.41032313dup NCBI36
NG_013356.2:g.24717dup , LRG_693:g.24717dup
NG_051206.1:g.2937dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.691dup MANE Select ENSP00000368190.4:p.Ser231PhefsTer22
ENST00000353632.6:c.691dup ENSP00000343634.5:p.Ser231PhefsTer22
ENST00000378910.9:c.691dup ENSP00000368190.4:p.Ser231PhefsTer22
NM_004646.3:c.691dup , LRG_693t1:c.691dup NP_004637.1:p.Ser231PhefsTer22
NM_004646.4:c.691dup MANE Select NP_004637.1:p.Ser231PhefsTer22
Search 100 bp 5'
Search 100 bp 3'