Canonical Allele Identifier: CA1210319036

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556553_179556554delinsTC , CM000663.2:g.179556553_179556554delinsTC	GRCh38
NC_000001.10:g.179525688_179525689delinsTC , CM000663.1:g.179525688_179525689delinsTC	GRCh37
NC_000001.9:g.177792311_177792312delinsTC	NCBI36
NG_007535.1:g.24396_24397delinsGA , LRG_887:g.24396_24397delinsGA
NG_033075.1:g.195834_195835delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+473_738+474delinsGA MANE Select	ENSP00000356587.4:n.738+473_738+474delinsGA
ENST00000367615.8:c.738+473_738+474delinsGA	ENSP00000356587.4:n.738+473_738+474delinsGA
ENST00000367616.4:c.535-2023_535-2022delinsGA	ENSP00000356588.4:n.535-2023_535-2022delinsGA
NM_001297575.1:c.535-2023_535-2022delinsGA	NP_001284504.1:n.535-2023_535-2022delinsGA
NM_014625.3:c.738+473_738+474delinsGA , LRG_887t1:c.738+473_738+474delinsGA	NP_055440.1:n.738+473_738+474delinsGA
XM_005245483.2:c.561+473_561+474delinsGA	XP_005245540.1:n.561+473_561+474delinsGA
XM_006711529.2:c.738+473_738+474delinsGA	XP_006711592.1:n.738+473_738+474delinsGA
XM_005245483.3:c.561+473_561+474delinsGA	XP_005245540.1:n.561+473_561+474delinsGA
XM_017002298.1:c.461+3125_461+3126delinsGA	XP_016857787.1:n.461+3125_461+3126delinsGA
XM_017002299.1:c.534+3125_534+3126delinsGA	XP_016857788.1:n.534+3125_534+3126delinsGA
NM_001297575.2:c.535-2023_535-2022delinsGA	NP_001284504.1:n.535-2023_535-2022delinsGA
NM_014625.4:c.738+473_738+474delinsGA MANE Select	NP_055440.1:n.738+473_738+474delinsGA