Canonical Allele Identifier: CA1210320881
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1674134175

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561427dup , CM000663.2:g.179561427dup GRCh38
NC_000001.10:g.179530562dup , CM000663.1:g.179530562dup GRCh37
NC_000001.9:g.177797185dup NCBI36
NG_007535.1:g.19523dup , LRG_887:g.19523dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.379-66dup MANE Select ENSP00000356587.4:n.379-66dup
ENST00000367615.8:c.379-66dup ENSP00000356587.4:n.379-66dup
ENST00000367616.4:c.379-66dup ENSP00000356588.4:n.379-66dup
NM_001297575.1:c.379-66dup NP_001284504.1:n.379-66dup
NM_014625.3:c.379-66dup , LRG_887t1:c.379-66dup NP_055440.1:n.379-66dup
XM_005245483.2:c.275-1666dup XP_005245540.1:n.275-1666dup
XM_006711529.2:c.379-66dup XP_006711592.1:n.379-66dup
XM_005245483.3:c.275-1666dup XP_005245540.1:n.275-1666dup
XM_017002298.1:c.379-1666dup XP_016857787.1:n.379-1666dup
XM_017002299.1:c.379-66dup XP_016857788.1:n.379-66dup
NM_001297575.2:c.379-66dup NP_001284504.1:n.379-66dup
NM_014625.4:c.379-66dup MANE Select NP_055440.1:n.379-66dup