Canonical Allele Identifier: CA2649316785

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179556971-C-CAAATGAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556975_179556982dup , CM000663.2:g.179556975_179556982dup	GRCh38
NC_000001.10:g.179526110_179526117dup , CM000663.1:g.179526110_179526117dup	GRCh37
NC_000001.9:g.177792733_177792740dup	NCBI36
NG_007535.1:g.23971_23978dup , LRG_887:g.23971_23978dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.738+48_738+55dup MANE Select	ENSP00000356587.4:n.738+48_738+55dup
ENST00000367615.8:c.738+48_738+55dup	ENSP00000356587.4:n.738+48_738+55dup
ENST00000367616.4:c.535-2448_535-2441dup	ENSP00000356588.4:n.535-2448_535-2441dup
NM_001297575.1:c.535-2448_535-2441dup	NP_001284504.1:n.535-2448_535-2441dup
NM_014625.3:c.738+48_738+55dup , LRG_887t1:c.738+48_738+55dup	NP_055440.1:n.738+48_738+55dup
XM_005245483.2:c.561+48_561+55dup	XP_005245540.1:n.561+48_561+55dup
XM_006711529.2:c.738+48_738+55dup	XP_006711592.1:n.738+48_738+55dup
XM_005245483.3:c.561+48_561+55dup	XP_005245540.1:n.561+48_561+55dup
XM_017002298.1:c.461+2700_461+2707dup	XP_016857787.1:n.461+2700_461+2707dup
XM_017002299.1:c.534+2700_534+2707dup	XP_016857788.1:n.534+2700_534+2707dup
NM_001297575.2:c.535-2448_535-2441dup	NP_001284504.1:n.535-2448_535-2441dup
NM_014625.4:c.738+48_738+55dup MANE Select	NP_055440.1:n.738+48_738+55dup