Canonical Allele Identifier: CA307787243
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs968200114
gnomAD v3: 19-35848542-GC-G
gnomAD v4: 19-35848542-GC-G
MyVariant Identifiers: chr19:g.36339445del (hg19) chr19:g.35848543del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848548del , CM000681.2:g.35848548del GRCh38
NC_000019.9:g.36339450del , CM000681.1:g.36339450del GRCh37
NC_000019.8:g.41031290del NCBI36
NG_013356.2:g.25745del , LRG_693:g.25745del
NG_051206.1:g.1914del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1170+94del MANE Select ENSP00000368190.4:n.1170+94del
ENST00000353632.6:c.1170+94del ENSP00000343634.5:n.1170+94del
ENST00000378910.9:c.1170+94del ENSP00000368190.4:n.1170+94del
ENST00000592132.1:n.177+94del
NM_004646.3:c.1170+94del , LRG_693t1:c.1170+94del NP_004637.1:n.1170+94del
NM_004646.4:c.1170+94del MANE Select NP_004637.1:n.1170+94del
Search 100 bp 5'
Search 100 bp 3'