Canonical Allele Identifier: CA2649317019

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575759-G-GGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575762_179575763insCCAGCC , CM000663.2:g.179575762_179575763insCCAGCC	GRCh38
NC_000001.10:g.179544897_179544898insCCAGCC , CM000663.1:g.179544897_179544898insCCAGCC	GRCh37
NC_000001.9:g.177811520_177811521insCCAGCC	NCBI36
NG_007535.1:g.5190_5191insTGGGGC , LRG_887:g.5190_5191insTGGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.105_106insTGGGGC MANE Select	ENSP00000356587.4:p.Gly35_Arg36insTrpGly
ENST00000367615.8:c.105_106insTGGGGC	ENSP00000356587.4:p.Gly35_Arg36insTrpGly
ENST00000367616.4:c.105_106insTGGGGC	ENSP00000356588.4:p.Gly35_Arg36insTrpGly
NM_001297575.1:c.105_106insTGGGGC	NP_001284504.1:p.Gly35_Arg36insTrpGly
NM_014625.3:c.105_106insTGGGGC , LRG_887t1:c.105_106insTGGGGC	NP_055440.1:p.Gly35_Arg36insTrpGly
XM_005245483.2:c.105_106insTGGGGC	XP_005245540.1:p.Gly35_Arg36insTrpGly
XM_006711529.2:c.105_106insTGGGGC	XP_006711592.1:p.Gly35_Arg36insTrpGly
XM_005245483.3:c.105_106insTGGGGC	XP_005245540.1:p.Gly35_Arg36insTrpGly
XM_017002298.1:c.105_106insTGGGGC	XP_016857787.1:p.Gly35_Arg36insTrpGly
XM_017002299.1:c.105_106insTGGGGC	XP_016857788.1:p.Gly35_Arg36insTrpGly
NM_001297575.2:c.105_106insTGGGGC	NP_001284504.1:p.Gly35_Arg36insTrpGly
NM_014625.4:c.105_106insTGGGGC MANE Select	NP_055440.1:p.Gly35_Arg36insTrpGly