Canonical Allele Identifier: CA9390641
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 556186
ClinVar RCV Id: RCV000672152
dbSNP Id: rs779725493
ExAC: 19:36340131 C / CCCTCACCTTCAGCCACTGCAGTGTG
gnomAD v2: 19-36340131-C-CCCTCACCTTCAGCCACTGCAGTGTG
gnomAD v4: 19-35849229-C-CCCTCACCTTCAGCCACTGCAGTGTG
MyVariant Identifiers: chr19:g.36340131_36340132insCCTCACCTTCAGCCACTGCAGTGTG (hg19) chr19:g.35849230_35849254dup (hg38) chr19:g.35849229_35849230insCCTCACCTTCAGCCACTGCAGTGTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849230_35849254dup , CM000681.2:g.35849230_35849254dup GRCh38
NC_000019.9:g.36340132_36340156dup , CM000681.1:g.36340132_36340156dup GRCh37
NC_000019.8:g.41031972_41031996dup NCBI36
NG_013356.2:g.25034_25058dup , LRG_693:g.25034_25058dup
NG_051206.1:g.2596_2620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.822_840+6dup
ENST00000353632.6:c.822_840+6dup
ENST00000378910.9:c.822_840+6dup
NM_004646.3:c.822_840+6dup , LRG_693t1:c.822_840+6dup
NM_004646.4:c.822_840+6dup
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