Canonical Allele Identifier: CA2649316847

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179564865-C-CAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564865_179564866insAGT , CM000663.2:g.179564865_179564866insAGT	GRCh38
NC_000001.10:g.179534000_179534001insAGT , CM000663.1:g.179534000_179534001insAGT	GRCh37
NC_000001.9:g.177800623_177800624insAGT	NCBI36
NG_007535.1:g.16084_16085insACT , LRG_887:g.16084_16085insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.275-73_275-72insACT MANE Select	ENSP00000356587.4:n.275-73_275-72insACT
ENST00000367615.8:c.275-73_275-72insACT	ENSP00000356587.4:n.275-73_275-72insACT
ENST00000367616.4:c.275-73_275-72insACT	ENSP00000356588.4:n.275-73_275-72insACT
NM_001297575.1:c.275-73_275-72insACT	NP_001284504.1:n.275-73_275-72insACT
NM_014625.3:c.275-73_275-72insACT , LRG_887t1:c.275-73_275-72insACT	NP_055440.1:n.275-73_275-72insACT
XM_005245483.2:c.275-5105_275-5104insACT	XP_005245540.1:n.275-5105_275-5104insACT
XM_006711529.2:c.275-73_275-72insACT	XP_006711592.1:n.275-73_275-72insACT
XM_005245483.3:c.275-5105_275-5104insACT	XP_005245540.1:n.275-5105_275-5104insACT
XM_017002298.1:c.275-73_275-72insACT	XP_016857787.1:n.275-73_275-72insACT
XM_017002299.1:c.275-73_275-72insACT	XP_016857788.1:n.275-73_275-72insACT
NM_001297575.2:c.275-73_275-72insACT	NP_001284504.1:n.275-73_275-72insACT
NM_014625.4:c.275-73_275-72insACT MANE Select	NP_055440.1:n.275-73_275-72insACT