Canonical Allele Identifier: CA2649316130

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179559813-T-TTATC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559814_179559815insATCT , CM000663.2:g.179559814_179559815insATCT	GRCh38
NC_000001.10:g.179528949_179528950insATCT , CM000663.1:g.179528949_179528950insATCT	GRCh37
NC_000001.9:g.177795572_177795573insATCT	NCBI36
NG_007535.1:g.21136_21137insGATA , LRG_887:g.21136_21137insGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.452-53_452-52insGATA MANE Select	ENSP00000356587.4:n.452-53_452-52insGATA
ENST00000367615.8:c.452-53_452-52insGATA	ENSP00000356587.4:n.452-53_452-52insGATA
ENST00000367616.4:c.452-53_452-52insGATA	ENSP00000356588.4:n.452-53_452-52insGATA
NM_001297575.1:c.452-53_452-52insGATA	NP_001284504.1:n.452-53_452-52insGATA
NM_014625.3:c.452-53_452-52insGATA , LRG_887t1:c.452-53_452-52insGATA	NP_055440.1:n.452-53_452-52insGATA
XM_005245483.2:c.275-53_275-52insGATA	XP_005245540.1:n.275-53_275-52insGATA
XM_006711529.2:c.452-53_452-52insGATA	XP_006711592.1:n.452-53_452-52insGATA
XM_005245483.3:c.275-53_275-52insGATA	XP_005245540.1:n.275-53_275-52insGATA
XM_017002298.1:c.379-53_379-52insGATA	XP_016857787.1:n.379-53_379-52insGATA
XM_017002299.1:c.452-53_452-52insGATA	XP_016857788.1:n.452-53_452-52insGATA
NM_001297575.2:c.452-53_452-52insGATA	NP_001284504.1:n.452-53_452-52insGATA
NM_014625.4:c.452-53_452-52insGATA MANE Select	NP_055440.1:n.452-53_452-52insGATA