Canonical Allele Identifier: CA645518943

Gene: NPHS2

Linked Data

• COSMIC: COSM4515697

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575739_179575740delinsTT , CM000663.2:g.179575739_179575740delinsTT	GRCh38
NC_000001.10:g.179544874_179544875delinsTT , CM000663.1:g.179544874_179544875delinsTT	GRCh37
NC_000001.9:g.177811497_177811498delinsTT	NCBI36
NG_007535.1:g.5210_5211delinsAA , LRG_887:g.5210_5211delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.125_126delinsAA MANE Select	ENSP00000356587.4:p.Gly42Glu
ENST00000367615.8:c.125_126delinsAA	ENSP00000356587.4:p.Gly42Glu
ENST00000367616.4:c.125_126delinsAA	ENSP00000356588.4:p.Gly42Glu
NM_001297575.1:c.125_126delinsAA	NP_001284504.1:p.Gly42Glu
NM_014625.3:c.125_126delinsAA , LRG_887t1:c.125_126delinsAA	NP_055440.1:p.Gly42Glu
XM_005245483.2:c.125_126delinsAA	XP_005245540.1:p.Gly42Glu
XM_006711529.2:c.125_126delinsAA	XP_006711592.1:p.Gly42Glu
XM_005245483.3:c.125_126delinsAA	XP_005245540.1:p.Gly42Glu
XM_017002298.1:c.125_126delinsAA	XP_016857787.1:p.Gly42Glu
XM_017002299.1:c.125_126delinsAA	XP_016857788.1:p.Gly42Glu
NM_001297575.2:c.125_126delinsAA	NP_001284504.1:p.Gly42Glu
NM_014625.4:c.125_126delinsAA MANE Select	NP_055440.1:p.Gly42Glu