Canonical Allele Identifier: CA1210320190

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559472_179559474delinsGAT , CM000663.2:g.179559472_179559474delinsGAT	GRCh38
NC_000001.10:g.179528607_179528609delinsGAT , CM000663.1:g.179528607_179528609delinsGAT	GRCh37
NC_000001.9:g.177795230_177795232delinsGAT	NCBI36
NG_007535.1:g.21476_21478delinsATC , LRG_887:g.21476_21478delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.534+205_534+207delinsATC MANE Select	ENSP00000356587.4:n.534+205_534+207delinsATC
ENST00000367615.8:c.534+205_534+207delinsATC	ENSP00000356587.4:n.534+205_534+207delinsATC
ENST00000367616.4:c.534+205_534+207delinsATC	ENSP00000356588.4:n.534+205_534+207delinsATC
NM_001297575.1:c.534+205_534+207delinsATC	NP_001284504.1:n.534+205_534+207delinsATC
NM_014625.3:c.534+205_534+207delinsATC , LRG_887t1:c.534+205_534+207delinsATC	NP_055440.1:n.534+205_534+207delinsATC
XM_005245483.2:c.357+205_357+207delinsATC	XP_005245540.1:n.357+205_357+207delinsATC
XM_006711529.2:c.534+205_534+207delinsATC	XP_006711592.1:n.534+205_534+207delinsATC
XM_005245483.3:c.357+205_357+207delinsATC	XP_005245540.1:n.357+205_357+207delinsATC
XM_017002298.1:c.461+205_461+207delinsATC	XP_016857787.1:n.461+205_461+207delinsATC
XM_017002299.1:c.534+205_534+207delinsATC	XP_016857788.1:n.534+205_534+207delinsATC
NM_001297575.2:c.534+205_534+207delinsATC	NP_001284504.1:n.534+205_534+207delinsATC
NM_014625.4:c.534+205_534+207delinsATC MANE Select	NP_055440.1:n.534+205_534+207delinsATC