Canonical Allele Identifier: CA1009660139

Gene: NPHS2

Linked Data

• gnomAD v3: 1-179559745-C-CAAAAAAAA
• gnomAD v4: 1-179559745-C-CAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559746_179559753dup , CM000663.2:g.179559746_179559753dup	GRCh38
NC_000001.10:g.179528881_179528888dup , CM000663.1:g.179528881_179528888dup	GRCh37
NC_000001.9:g.177795504_177795511dup	NCBI36
NG_007535.1:g.21197_21204dup , LRG_887:g.21197_21204dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.460_467dup MANE Select	ENSP00000356587.4:p.Leu156PhefsTer28
ENST00000367615.8:c.460_467dup	ENSP00000356587.4:p.Leu156PhefsTer28
ENST00000367616.4:c.460_467dup	ENSP00000356588.4:p.Leu156PhefsTer32
NM_001297575.1:c.460_467dup	NP_001284504.1:p.Leu156PhefsTer32
NM_014625.3:c.460_467dup , LRG_887t1:c.460_467dup	NP_055440.1:p.Leu156PhefsTer28
XM_005245483.2:c.283_290dup	XP_005245540.1:p.Leu97PhefsTer28
XM_006711529.2:c.460_467dup	XP_006711592.1:p.Leu156PhefsTer28
XM_005245483.3:c.283_290dup	XP_005245540.1:p.Leu97PhefsTer28
XM_017002298.1:c.387_394dup	XP_016857787.1:p.Cys132PhefsTer13
XM_017002299.1:c.460_467dup	XP_016857788.1:p.Leu156PhefsTer?
NM_001297575.2:c.460_467dup	NP_001284504.1:p.Leu156PhefsTer32
NM_014625.4:c.460_467dup MANE Select	NP_055440.1:p.Leu156PhefsTer28