Canonical Allele Identifier: CA1210320920

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561509_179561513delinsATATT , CM000663.2:g.179561509_179561513delinsATATT	GRCh38
NC_000001.10:g.179530644_179530648delinsATATT , CM000663.1:g.179530644_179530648delinsATATT	GRCh37
NC_000001.9:g.177797267_177797271delinsATATT	NCBI36
NG_007535.1:g.19437_19441delinsAATAT , LRG_887:g.19437_19441delinsAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.379-152_379-148delinsAATAT MANE Select	ENSP00000356587.4:n.379-152_379-148delinsAATAT
ENST00000367615.8:c.379-152_379-148delinsAATAT	ENSP00000356587.4:n.379-152_379-148delinsAATAT
ENST00000367616.4:c.379-152_379-148delinsAATAT	ENSP00000356588.4:n.379-152_379-148delinsAATAT
NM_001297575.1:c.379-152_379-148delinsAATAT	NP_001284504.1:n.379-152_379-148delinsAATAT
NM_014625.3:c.379-152_379-148delinsAATAT , LRG_887t1:c.379-152_379-148delinsAATAT	NP_055440.1:n.379-152_379-148delinsAATAT
XM_005245483.2:c.275-1752_275-1748delinsAATAT	XP_005245540.1:n.275-1752_275-1748delinsAATAT
XM_006711529.2:c.379-152_379-148delinsAATAT	XP_006711592.1:n.379-152_379-148delinsAATAT
XM_005245483.3:c.275-1752_275-1748delinsAATAT	XP_005245540.1:n.275-1752_275-1748delinsAATAT
XM_017002298.1:c.379-1752_379-1748delinsAATAT	XP_016857787.1:n.379-1752_379-1748delinsAATAT
XM_017002299.1:c.379-152_379-148delinsAATAT	XP_016857788.1:n.379-152_379-148delinsAATAT
NM_001297575.2:c.379-152_379-148delinsAATAT	NP_001284504.1:n.379-152_379-148delinsAATAT
NM_014625.4:c.379-152_379-148delinsAATAT MANE Select	NP_055440.1:n.379-152_379-148delinsAATAT