Canonical Allele Identifier: CA16040672
Gene: NPHS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370936
ClinVar RCV Id: RCV000410922
dbSNP Id: rs1057516880
MyVariant Identifiers: chr1:g.179544904_179544905insTA (hg19) chr1:g.179575769_179575770insTA (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575769_179575770insTA , CM000663.2:g.179575769_179575770insTA GRCh38
NC_000001.9:g.177811527_177811528insTA NCBI36
NC_000001.10:g.179544904_179544905insTA , CM000663.1:g.179544904_179544905insTA GRCh37
NG_007535.1:g.5180_5181insTA , LRG_887:g.5180_5181insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.8:c.95_96insTA ENSP00000356587.4:p.Gly33ThrfsTer?
ENST00000367616.4:c.95_96insTA ENSP00000356588.4:p.Gly33ThrfsTer?
NM_001297575.1:c.95_96insTA NP_001284504.1:p.Gly33ThrfsTer?
NM_014625.3:c.95_96insTA , LRG_887t1:c.95_96insTA NP_055440.1:p.Gly33ThrfsTer?
XM_005245483.2:c.95_96insTA XP_005245540.1:p.Gly33ThrfsTer?
XM_006711529.2:c.95_96insTA XP_006711592.1:p.Gly33ThrfsTer?