Canonical Allele Identifier: CA1267268
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1111940
ClinVar RCV Id: RCV001438732
dbSNP Id: rs768308280
ExAC: 1:179533931 T / TA
gnomAD v2: 1-179533931-T-TA
gnomAD v4: 1-179564796-T-TA
MyVariant Identifiers: chr1:g.179533935_179533936insA (hg19) chr1:g.179533931_179533932insA (hg19) chr1:g.179564800_179564801insA (hg38) chr1:g.179564796_179564797insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564803dup , CM000663.2:g.179564803dup GRCh38
NC_000001.10:g.179533938dup , CM000663.1:g.179533938dup GRCh37
NC_000001.9:g.177800561dup NCBI36
NG_007535.1:g.16153dup , LRG_887:g.16153dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.275-4dup MANE Select ENSP00000356587.4:n.275-4dup
ENST00000367615.8:c.275-4dup ENSP00000356587.4:n.275-4dup
ENST00000367616.4:c.275-4dup ENSP00000356588.4:n.275-4dup
NM_001297575.1:c.275-4dup NP_001284504.1:n.275-4dup
NM_014625.3:c.275-4dup , LRG_887t1:c.275-4dup NP_055440.1:n.275-4dup
XM_005245483.2:c.275-5036dup XP_005245540.1:n.275-5036dup
XM_006711529.2:c.275-4dup XP_006711592.1:n.275-4dup
XM_005245483.3:c.275-5036dup XP_005245540.1:n.275-5036dup
XM_017002298.1:c.275-4dup XP_016857787.1:n.275-4dup
XM_017002299.1:c.275-4dup XP_016857788.1:n.275-4dup
NM_001297575.2:c.275-4dup NP_001284504.1:n.275-4dup
NM_014625.4:c.275-4dup MANE Select NP_055440.1:n.275-4dup
Search 100 bp 5'
Search 100 bp 3'