Canonical Allele Identifier: CA2584603831
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848792dup , CM000681.2:g.35848792dup GRCh38
NC_000019.9:g.36339694dup , CM000681.1:g.36339694dup GRCh37
NC_000019.8:g.41031534dup NCBI36
NG_013356.2:g.25500dup , LRG_693:g.25500dup
NG_051206.1:g.2158dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1019dup MANE Select ENSP00000368190.4:p.Ser341Ter
ENST00000353632.6:c.1019dup ENSP00000343634.5:p.Ser341Ter
ENST00000378910.9:c.1019dup ENSP00000368190.4:p.Ser341Ter
ENST00000592132.1:n.26dup
NM_004646.3:c.1019dup , LRG_693t1:c.1019dup NP_004637.1:p.Ser341Ter
NM_004646.4:c.1019dup MANE Select NP_004637.1:p.Ser341Ter