Canonical Allele Identifier: CA2649316359

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179561276-A-AGTGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561277_179561283dup , CM000663.2:g.179561277_179561283dup	GRCh38
NC_000001.10:g.179530412_179530418dup , CM000663.1:g.179530412_179530418dup	GRCh37
NC_000001.9:g.177797035_177797041dup	NCBI36
NG_007535.1:g.19667_19673dup , LRG_887:g.19667_19673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.451+6_451+12dup MANE Select	ENSP00000356587.4:n.451+6_451+12dup
ENST00000367615.8:c.451+6_451+12dup	ENSP00000356587.4:n.451+6_451+12dup
ENST00000367616.4:c.451+6_451+12dup	ENSP00000356588.4:n.451+6_451+12dup
NM_001297575.1:c.451+6_451+12dup	NP_001284504.1:n.451+6_451+12dup
NM_014625.3:c.451+6_451+12dup , LRG_887t1:c.451+6_451+12dup	NP_055440.1:n.451+6_451+12dup
XM_005245483.2:c.275-1522_275-1516dup	XP_005245540.1:n.275-1522_275-1516dup
XM_006711529.2:c.451+6_451+12dup	XP_006711592.1:n.451+6_451+12dup
XM_005245483.3:c.275-1522_275-1516dup	XP_005245540.1:n.275-1522_275-1516dup
XM_017002298.1:c.379-1522_379-1516dup	XP_016857787.1:n.379-1522_379-1516dup
XM_017002299.1:c.451+6_451+12dup	XP_016857788.1:n.451+6_451+12dup
NM_001297575.2:c.451+6_451+12dup	NP_001284504.1:n.451+6_451+12dup
NM_014625.4:c.451+6_451+12dup MANE Select	NP_055440.1:n.451+6_451+12dup