Canonical Allele Identifier: CA1210319034

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673936660

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556551_179556552del , CM000663.2:g.179556551_179556552del	GRCh38
NC_000001.10:g.179525686_179525687del , CM000663.1:g.179525686_179525687del	GRCh37
NC_000001.9:g.177792309_177792310del	NCBI36
NG_007535.1:g.24398_24399del , LRG_887:g.24398_24399del
NG_033075.1:g.195832_195833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+475_738+476del MANE Select	ENSP00000356587.4:n.738+475_738+476del
ENST00000367615.8:c.738+475_738+476del	ENSP00000356587.4:n.738+475_738+476del
ENST00000367616.4:c.535-2021_535-2020del	ENSP00000356588.4:n.535-2021_535-2020del
NM_001297575.1:c.535-2021_535-2020del	NP_001284504.1:n.535-2021_535-2020del
NM_014625.3:c.738+475_738+476del , LRG_887t1:c.738+475_738+476del	NP_055440.1:n.738+475_738+476del
XM_005245483.2:c.561+475_561+476del	XP_005245540.1:n.561+475_561+476del
XM_006711529.2:c.738+475_738+476del	XP_006711592.1:n.738+475_738+476del
XM_005245483.3:c.561+475_561+476del	XP_005245540.1:n.561+475_561+476del
XM_017002298.1:c.461+3127_461+3128del	XP_016857787.1:n.461+3127_461+3128del
XM_017002299.1:c.534+3127_534+3128del	XP_016857788.1:n.534+3127_534+3128del
NM_001297575.2:c.535-2021_535-2020del	NP_001284504.1:n.535-2021_535-2020del
NM_014625.4:c.738+475_738+476del MANE Select	NP_055440.1:n.738+475_738+476del