Canonical Allele Identifier: CA1210322083

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564690_179564691delinsCT , CM000663.2:g.179564690_179564691delinsCT	GRCh38
NC_000001.10:g.179533825_179533826delinsCT , CM000663.1:g.179533825_179533826delinsCT	GRCh37
NC_000001.9:g.177800448_177800449delinsCT	NCBI36
NG_007535.1:g.16259_16260delinsAG , LRG_887:g.16259_16260delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.377_378delinsAG MANE Select	ENSP00000356587.4:p.Lys126=
ENST00000367615.8:c.377_378delinsAG	ENSP00000356587.4:p.Lys126=
ENST00000367616.4:c.377_378delinsAG	ENSP00000356588.4:p.Lys126=
NM_001297575.1:c.377_378delinsAG	NP_001284504.1:p.Lys126=
NM_014625.3:c.377_378delinsAG , LRG_887t1:c.377_378delinsAG	NP_055440.1:p.Lys126=
XM_005245483.2:c.275-4930_275-4929delinsAG	XP_005245540.1:n.275-4930_275-4929delinsAG
XM_006711529.2:c.377_378delinsAG	XP_006711592.1:p.Lys126=
XM_005245483.3:c.275-4930_275-4929delinsAG	XP_005245540.1:n.275-4930_275-4929delinsAG
XM_017002298.1:c.377_378delinsAG	XP_016857787.1:p.Lys126=
XM_017002299.1:c.377_378delinsAG	XP_016857788.1:p.Lys126=
NM_001297575.2:c.377_378delinsAG	NP_001284504.1:p.Lys126=
NM_014625.4:c.377_378delinsAG MANE Select	NP_055440.1:p.Lys126=