Canonical Allele Identifier: CA2649316109

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559806-A-AACCCAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559806_179559807insACCCAAAC , CM000663.2:g.179559806_179559807insACCCAAAC	GRCh38
NC_000001.10:g.179528941_179528942insACCCAAAC , CM000663.1:g.179528941_179528942insACCCAAAC	GRCh37
NC_000001.9:g.177795564_177795565insACCCAAAC	NCBI36
NG_007535.1:g.21143_21144insGTTTGGGT , LRG_887:g.21143_21144insGTTTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-46_452-45insGTTTGGGT MANE Select	ENSP00000356587.4:n.452-46_452-45insGTTTGGGT
ENST00000367615.8:c.452-46_452-45insGTTTGGGT	ENSP00000356587.4:n.452-46_452-45insGTTTGGGT
ENST00000367616.4:c.452-46_452-45insGTTTGGGT	ENSP00000356588.4:n.452-46_452-45insGTTTGGGT
NM_001297575.1:c.452-46_452-45insGTTTGGGT	NP_001284504.1:n.452-46_452-45insGTTTGGGT
NM_014625.3:c.452-46_452-45insGTTTGGGT , LRG_887t1:c.452-46_452-45insGTTTGGGT	NP_055440.1:n.452-46_452-45insGTTTGGGT
XM_005245483.2:c.275-46_275-45insGTTTGGGT	XP_005245540.1:n.275-46_275-45insGTTTGGGT
XM_006711529.2:c.452-46_452-45insGTTTGGGT	XP_006711592.1:n.452-46_452-45insGTTTGGGT
XM_005245483.3:c.275-46_275-45insGTTTGGGT	XP_005245540.1:n.275-46_275-45insGTTTGGGT
XM_017002298.1:c.379-46_379-45insGTTTGGGT	XP_016857787.1:n.379-46_379-45insGTTTGGGT
XM_017002299.1:c.452-46_452-45insGTTTGGGT	XP_016857788.1:n.452-46_452-45insGTTTGGGT
NM_001297575.2:c.452-46_452-45insGTTTGGGT	NP_001284504.1:n.452-46_452-45insGTTTGGGT
NM_014625.4:c.452-46_452-45insGTTTGGGT MANE Select	NP_055440.1:n.452-46_452-45insGTTTGGGT