Canonical Allele Identifier: CA1210322165

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564901_179564903delinsCTT , CM000663.2:g.179564901_179564903delinsCTT	GRCh38
NC_000001.10:g.179534036_179534038delinsCTT , CM000663.1:g.179534036_179534038delinsCTT	GRCh37
NC_000001.9:g.177800659_177800661delinsCTT	NCBI36
NG_007535.1:g.16047_16049delinsAAG , LRG_887:g.16047_16049delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.275-110_275-108delinsAAG MANE Select	ENSP00000356587.4:n.275-110_275-108delinsAAG
ENST00000367615.8:c.275-110_275-108delinsAAG	ENSP00000356587.4:n.275-110_275-108delinsAAG
ENST00000367616.4:c.275-110_275-108delinsAAG	ENSP00000356588.4:n.275-110_275-108delinsAAG
NM_001297575.1:c.275-110_275-108delinsAAG	NP_001284504.1:n.275-110_275-108delinsAAG
NM_014625.3:c.275-110_275-108delinsAAG , LRG_887t1:c.275-110_275-108delinsAAG	NP_055440.1:n.275-110_275-108delinsAAG
XM_005245483.2:c.275-5142_275-5140delinsAAG	XP_005245540.1:n.275-5142_275-5140delinsAAG
XM_006711529.2:c.275-110_275-108delinsAAG	XP_006711592.1:n.275-110_275-108delinsAAG
XM_005245483.3:c.275-5142_275-5140delinsAAG	XP_005245540.1:n.275-5142_275-5140delinsAAG
XM_017002298.1:c.275-110_275-108delinsAAG	XP_016857787.1:n.275-110_275-108delinsAAG
XM_017002299.1:c.275-110_275-108delinsAAG	XP_016857788.1:n.275-110_275-108delinsAAG
NM_001297575.2:c.275-110_275-108delinsAAG	NP_001284504.1:n.275-110_275-108delinsAAG
NM_014625.4:c.275-110_275-108delinsAAG MANE Select	NP_055440.1:n.275-110_275-108delinsAAG