Canonical Allele Identifier: CA2695228636
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848343_35848345del , CM000681.2:g.35848343_35848345del GRCh38
NC_000019.9:g.36339245_36339247del , CM000681.1:g.36339245_36339247del GRCh37
NC_000019.8:g.41031085_41031087del NCBI36
NG_013356.2:g.25943_25945del , LRG_693:g.25943_25945del
NG_051206.1:g.1709_1711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1223_1225del MANE Select ENSP00000368190.4:p.Arg408_Glu409delinsGln
ENST00000353632.6:c.1223_1225del ENSP00000343634.5:p.Arg408_Glu409delinsGln
ENST00000378910.9:c.1223_1225del ENSP00000368190.4:p.Arg408_Glu409delinsGln
ENST00000592132.1:n.230_232del
NM_004646.3:c.1223_1225del , LRG_693t1:c.1223_1225del NP_004637.1:p.Arg408_Glu409delinsGln
NM_004646.4:c.1223_1225del MANE Select NP_004637.1:p.Arg408_Glu409delinsGln
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Search 100 bp 3'