Canonical Allele Identifier: CA16040670
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370315
ClinVar RCV Id: RCV000412170
dbSNP Id: rs1057516395
MyVariant Identifiers: chr1:g.179533834del (hg19) chr1:g.179564699del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564699del , CM000663.2:g.179564699del GRCh38
NC_000001.10:g.179533834del , CM000663.1:g.179533834del GRCh37
NC_000001.9:g.177800457del NCBI36
NG_007535.1:g.16251del , LRG_887:g.16251del

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.369del MANE Select ENSP00000356587.4:p.Cys124AlafsTer2
ENST00000367615.8:c.369del ENSP00000356587.4:p.Cys124AlafsTer2
ENST00000367616.4:c.369del ENSP00000356588.4:p.Cys124AlafsTer2
NM_001297575.1:c.369del NP_001284504.1:p.Cys124AlafsTer2
NM_014625.3:c.369del , LRG_887t1:c.369del NP_055440.1:p.Cys124AlafsTer2
XM_005245483.2:c.275-4938del XP_005245540.1:n.275-4938del
XM_006711529.2:c.369del XP_006711592.1:p.Cys124AlafsTer2
XM_005245483.3:c.275-4938del XP_005245540.1:n.275-4938del
XM_017002298.1:c.369del XP_016857787.1:p.Cys124AlafsTer2
XM_017002299.1:c.369del XP_016857788.1:p.Cys124AlafsTer2
NM_001297575.2:c.369del NP_001284504.1:p.Cys124AlafsTer2
NM_014625.4:c.369del MANE Select NP_055440.1:p.Cys124AlafsTer2
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