Canonical Allele Identifier: CA1210320235
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559580_179559581delinsAT , CM000663.2:g.179559580_179559581delinsAT GRCh38
NC_000001.10:g.179528715_179528716delinsAT , CM000663.1:g.179528715_179528716delinsAT GRCh37
NC_000001.9:g.177795338_177795339delinsAT NCBI36
NG_007535.1:g.21369_21370delinsAT , LRG_887:g.21369_21370delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.534+98_534+99delinsAT MANE Select ENSP00000356587.4:n.534+98_534+99delinsAT
ENST00000367615.8:c.534+98_534+99delinsAT ENSP00000356587.4:n.534+98_534+99delinsAT
ENST00000367616.4:c.534+98_534+99delinsAT ENSP00000356588.4:n.534+98_534+99delinsAT
NM_001297575.1:c.534+98_534+99delinsAT NP_001284504.1:n.534+98_534+99delinsAT
NM_014625.3:c.534+98_534+99delinsAT , LRG_887t1:c.534+98_534+99delinsAT NP_055440.1:n.534+98_534+99delinsAT
XM_005245483.2:c.357+98_357+99delinsAT XP_005245540.1:n.357+98_357+99delinsAT
XM_006711529.2:c.534+98_534+99delinsAT XP_006711592.1:n.534+98_534+99delinsAT
XM_005245483.3:c.357+98_357+99delinsAT XP_005245540.1:n.357+98_357+99delinsAT
XM_017002298.1:c.461+98_461+99delinsAT XP_016857787.1:n.461+98_461+99delinsAT
XM_017002299.1:c.534+98_534+99delinsAT XP_016857788.1:n.534+98_534+99delinsAT
NM_001297575.2:c.534+98_534+99delinsAT NP_001284504.1:n.534+98_534+99delinsAT
NM_014625.4:c.534+98_534+99delinsAT MANE Select NP_055440.1:n.534+98_534+99delinsAT