Canonical Allele Identifier: CA2649316103

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559804-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559804_179559805insCT , CM000663.2:g.179559804_179559805insCT	GRCh38
NC_000001.10:g.179528939_179528940insCT , CM000663.1:g.179528939_179528940insCT	GRCh37
NC_000001.9:g.177795562_177795563insCT	NCBI36
NG_007535.1:g.21145_21146insAG , LRG_887:g.21145_21146insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-44_452-43insAG MANE Select	ENSP00000356587.4:n.452-44_452-43insAG
ENST00000367615.8:c.452-44_452-43insAG	ENSP00000356587.4:n.452-44_452-43insAG
ENST00000367616.4:c.452-44_452-43insAG	ENSP00000356588.4:n.452-44_452-43insAG
NM_001297575.1:c.452-44_452-43insAG	NP_001284504.1:n.452-44_452-43insAG
NM_014625.3:c.452-44_452-43insAG , LRG_887t1:c.452-44_452-43insAG	NP_055440.1:n.452-44_452-43insAG
XM_005245483.2:c.275-44_275-43insAG	XP_005245540.1:n.275-44_275-43insAG
XM_006711529.2:c.452-44_452-43insAG	XP_006711592.1:n.452-44_452-43insAG
XM_005245483.3:c.275-44_275-43insAG	XP_005245540.1:n.275-44_275-43insAG
XM_017002298.1:c.379-44_379-43insAG	XP_016857787.1:n.379-44_379-43insAG
XM_017002299.1:c.452-44_452-43insAG	XP_016857788.1:n.452-44_452-43insAG
NM_001297575.2:c.452-44_452-43insAG	NP_001284504.1:n.452-44_452-43insAG
NM_014625.4:c.452-44_452-43insAG MANE Select	NP_055440.1:n.452-44_452-43insAG