Canonical Allele Identifier: CA1210320922

Gene: NPHS2

Linked Data

• dbSNP Id: rs1674137928
• gnomAD v4: 1-179561509-ATATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561512_179561515del , CM000663.2:g.179561512_179561515del	GRCh38
NC_000001.10:g.179530647_179530650del , CM000663.1:g.179530647_179530650del	GRCh37
NC_000001.9:g.177797270_177797273del	NCBI36
NG_007535.1:g.19437_19440del , LRG_887:g.19437_19440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.379-152_379-149del MANE Select	ENSP00000356587.4:n.379-152_379-149del
ENST00000367615.8:c.379-152_379-149del	ENSP00000356587.4:n.379-152_379-149del
ENST00000367616.4:c.379-152_379-149del	ENSP00000356588.4:n.379-152_379-149del
NM_001297575.1:c.379-152_379-149del	NP_001284504.1:n.379-152_379-149del
NM_014625.3:c.379-152_379-149del , LRG_887t1:c.379-152_379-149del	NP_055440.1:n.379-152_379-149del
XM_005245483.2:c.275-1752_275-1749del	XP_005245540.1:n.275-1752_275-1749del
XM_006711529.2:c.379-152_379-149del	XP_006711592.1:n.379-152_379-149del
XM_005245483.3:c.275-1752_275-1749del	XP_005245540.1:n.275-1752_275-1749del
XM_017002298.1:c.379-1752_379-1749del	XP_016857787.1:n.379-1752_379-1749del
XM_017002299.1:c.379-152_379-149del	XP_016857788.1:n.379-152_379-149del
NM_001297575.2:c.379-152_379-149del	NP_001284504.1:n.379-152_379-149del
NM_014625.4:c.379-152_379-149del MANE Select	NP_055440.1:n.379-152_379-149del