Canonical Allele Identifier: CA2649317204

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179575963-G-GACGGTCTTTAGGGTCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575963_179575964insACGGTCTTTAGGGTCCCCC , CM000663.2:g.179575963_179575964insACGGTCTTTAGGGTCCCCC	GRCh38
NC_000001.10:g.179545098_179545099insACGGTCTTTAGGGTCCCCC , CM000663.1:g.179545098_179545099insACGGTCTTTAGGGTCCCCC	GRCh37
NC_000001.9:g.177811721_177811722insACGGTCTTTAGGGTCCCCC	NCBI36
NG_007535.1:g.4986_4987insGGGGGACCCTAAAGACCGT , LRG_887:g.4986_4987insGGGGGACCCTAAAGACCGT

Transcript Alleles

HGVS	Amino-acid Change
XM_005245483.2:c.-100_-99insGGGGGACCCTAAAGACCGT	XP_005245540.1:n.-100_-99insGGGGGACCCTAAAGACCGT
XM_006711529.2:c.-100_-99insGGGGGACCCTAAAGACCGT	XP_006711592.1:n.-100_-99insGGGGGACCCTAAAGACCGT
XM_005245483.3:c.-100_-99insGGGGGACCCTAAAGACCGT	XP_005245540.1:n.-100_-99insGGGGGACCCTAAAGACCGT
XM_017002298.1:c.-100_-99insGGGGGACCCTAAAGACCGT	XP_016857787.1:n.-100_-99insGGGGGACCCTAAAGACCGT
XM_017002299.1:c.-100_-99insGGGGGACCCTAAAGACCGT	XP_016857788.1:n.-100_-99insGGGGGACCCTAAAGACCGT