Canonical Allele Identifier: CA2584603580
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35847813-C-CAATTTTTATCCTAAAATTCTCACTGTTTCCCCAG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35847820_35847853dup , CM000681.2:g.35847820_35847853dup GRCh38
NC_000019.9:g.36338722_36338755dup , CM000681.1:g.36338722_36338755dup GRCh37
NC_000019.8:g.41030562_41030595dup NCBI36
NG_013356.2:g.26441_26474dup , LRG_693:g.26441_26474dup
NG_051206.1:g.1186_1219dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1440+194_1440+227dup MANE Select ENSP00000368190.4:n.1440+194_1440+227dup
ENST00000353632.6:c.1440+194_1440+227dup ENSP00000343634.5:n.1440+194_1440+227dup
ENST00000378910.9:c.1440+194_1440+227dup ENSP00000368190.4:n.1440+194_1440+227dup
NM_004646.3:c.1440+194_1440+227dup , LRG_693t1:c.1440+194_1440+227dup NP_004637.1:n.1440+194_1440+227dup
NM_004646.4:c.1440+194_1440+227dup MANE Select NP_004637.1:n.1440+194_1440+227dup
Search 100 bp 5'
Search 100 bp 3'