Canonical Allele Identifier: CA1210326647
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575634_179575635delinsGC , CM000663.2:g.179575634_179575635delinsGC GRCh38
NC_000001.10:g.179544769_179544770delinsGC , CM000663.1:g.179544769_179544770delinsGC GRCh37
NC_000001.9:g.177811392_177811393delinsGC NCBI36
NG_007535.1:g.5315_5316delinsGC , LRG_887:g.5315_5316delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.230_231delinsGC MANE Select ENSP00000356587.4:p.Gly77=
ENST00000367615.8:c.230_231delinsGC ENSP00000356587.4:p.Gly77=
ENST00000367616.4:c.230_231delinsGC ENSP00000356588.4:p.Gly77=
NM_001297575.1:c.230_231delinsGC NP_001284504.1:p.Gly77=
NM_014625.3:c.230_231delinsGC , LRG_887t1:c.230_231delinsGC NP_055440.1:p.Gly77=
XM_005245483.2:c.230_231delinsGC XP_005245540.1:p.Gly77=
XM_006711529.2:c.230_231delinsGC XP_006711592.1:p.Gly77=
XM_005245483.3:c.230_231delinsGC XP_005245540.1:p.Gly77=
XM_017002298.1:c.230_231delinsGC XP_016857787.1:p.Gly77=
XM_017002299.1:c.230_231delinsGC XP_016857788.1:p.Gly77=
NM_001297575.2:c.230_231delinsGC NP_001284504.1:p.Gly77=
NM_014625.4:c.230_231delinsGC MANE Select NP_055440.1:p.Gly77=