Canonical Allele Identifier: CA2649316759

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179556927-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556929_179556930del , CM000663.2:g.179556929_179556930del	GRCh38
NC_000001.10:g.179526064_179526065del , CM000663.1:g.179526064_179526065del	GRCh37
NC_000001.9:g.177792687_177792688del	NCBI36
NG_007535.1:g.24021_24022del , LRG_887:g.24021_24022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+98_738+99del MANE Select	ENSP00000356587.4:n.738+98_738+99del
ENST00000367615.8:c.738+98_738+99del	ENSP00000356587.4:n.738+98_738+99del
ENST00000367616.4:c.535-2398_535-2397del	ENSP00000356588.4:n.535-2398_535-2397del
NM_001297575.1:c.535-2398_535-2397del	NP_001284504.1:n.535-2398_535-2397del
NM_014625.3:c.738+98_738+99del , LRG_887t1:c.738+98_738+99del	NP_055440.1:n.738+98_738+99del
XM_005245483.2:c.561+98_561+99del	XP_005245540.1:n.561+98_561+99del
XM_006711529.2:c.738+98_738+99del	XP_006711592.1:n.738+98_738+99del
XM_005245483.3:c.561+98_561+99del	XP_005245540.1:n.561+98_561+99del
XM_017002298.1:c.461+2750_461+2751del	XP_016857787.1:n.461+2750_461+2751del
XM_017002299.1:c.534+2750_534+2751del	XP_016857788.1:n.534+2750_534+2751del
NM_001297575.2:c.535-2398_535-2397del	NP_001284504.1:n.535-2398_535-2397del
NM_014625.4:c.738+98_738+99del MANE Select	NP_055440.1:n.738+98_738+99del