Canonical Allele Identifier: CA2649316502
Gene: NPHS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561494_179561495del , CM000663.2:g.179561494_179561495del GRCh38
NC_000001.10:g.179530629_179530630del , CM000663.1:g.179530629_179530630del GRCh37
NC_000001.9:g.177797252_177797253del NCBI36
NG_007535.1:g.19455_19456del , LRG_887:g.19455_19456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.379-134_379-133del MANE Select ENSP00000356587.4:n.379-134_379-133del
ENST00000367615.8:c.379-134_379-133del ENSP00000356587.4:n.379-134_379-133del
ENST00000367616.4:c.379-134_379-133del ENSP00000356588.4:n.379-134_379-133del
NM_001297575.1:c.379-134_379-133del NP_001284504.1:n.379-134_379-133del
NM_014625.3:c.379-134_379-133del , LRG_887t1:c.379-134_379-133del NP_055440.1:n.379-134_379-133del
XM_005245483.2:c.275-1734_275-1733del XP_005245540.1:n.275-1734_275-1733del
XM_006711529.2:c.379-134_379-133del XP_006711592.1:n.379-134_379-133del
XM_005245483.3:c.275-1734_275-1733del XP_005245540.1:n.275-1734_275-1733del
XM_017002298.1:c.379-1734_379-1733del XP_016857787.1:n.379-1734_379-1733del
XM_017002299.1:c.379-134_379-133del XP_016857788.1:n.379-134_379-133del
NM_001297575.2:c.379-134_379-133del NP_001284504.1:n.379-134_379-133del
NM_014625.4:c.379-134_379-133del MANE Select NP_055440.1:n.379-134_379-133del