Canonical Allele Identifier: CA1210326598

Gene: NPHS2

Linked Data

• dbSNP Id: rs1674723702
• gnomAD v4: 1-179575524-T-TCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575526_179575529dup , CM000663.2:g.179575526_179575529dup	GRCh38
NC_000001.10:g.179544661_179544664dup , CM000663.1:g.179544661_179544664dup	GRCh37
NC_000001.9:g.177811284_177811287dup	NCBI36
NG_007535.1:g.5422_5425dup , LRG_887:g.5422_5425dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.274+63_274+66dup MANE Select	ENSP00000356587.4:n.274+63_274+66dup
ENST00000367615.8:c.274+63_274+66dup	ENSP00000356587.4:n.274+63_274+66dup
ENST00000367616.4:c.274+63_274+66dup	ENSP00000356588.4:n.274+63_274+66dup
NM_001297575.1:c.274+63_274+66dup	NP_001284504.1:n.274+63_274+66dup
NM_014625.3:c.274+63_274+66dup , LRG_887t1:c.274+63_274+66dup	NP_055440.1:n.274+63_274+66dup
XM_005245483.2:c.274+63_274+66dup	XP_005245540.1:n.274+63_274+66dup
XM_006711529.2:c.274+63_274+66dup	XP_006711592.1:n.274+63_274+66dup
XM_005245483.3:c.274+63_274+66dup	XP_005245540.1:n.274+63_274+66dup
XM_017002298.1:c.274+63_274+66dup	XP_016857787.1:n.274+63_274+66dup
XM_017002299.1:c.274+63_274+66dup	XP_016857788.1:n.274+63_274+66dup
NM_001297575.2:c.274+63_274+66dup	NP_001284504.1:n.274+63_274+66dup
NM_014625.4:c.274+63_274+66dup MANE Select	NP_055440.1:n.274+63_274+66dup