Canonical Allele Identifier: CA2695228632
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848320dup , CM000681.2:g.35848320dup GRCh38
NC_000019.9:g.36339222dup , CM000681.1:g.36339222dup GRCh37
NC_000019.8:g.41031062dup NCBI36
NG_013356.2:g.25968dup , LRG_693:g.25968dup
NG_051206.1:g.1686dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1248dup MANE Select ENSP00000368190.4:p.Cys417MetfsTer2
ENST00000353632.6:c.1248dup ENSP00000343634.5:p.Cys417MetfsTer2
ENST00000378910.9:c.1248dup ENSP00000368190.4:p.Cys417MetfsTer2
ENST00000592132.1:n.255dup
NM_004646.3:c.1248dup , LRG_693t1:c.1248dup NP_004637.1:p.Cys417MetfsTer2
NM_004646.4:c.1248dup MANE Select NP_004637.1:p.Cys417MetfsTer2
Search 100 bp 5'
Search 100 bp 3'