Canonical Allele Identifier: CA1210321976

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564416_179564418delinsAAT , CM000663.2:g.179564416_179564418delinsAAT	GRCh38
NC_000001.10:g.179533551_179533553delinsAAT , CM000663.1:g.179533551_179533553delinsAAT	GRCh37
NC_000001.9:g.177800174_177800176delinsAAT	NCBI36
NG_007535.1:g.16532_16534delinsATT , LRG_887:g.16532_16534delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.378+272_378+274delinsATT MANE Select	ENSP00000356587.4:n.378+272_378+274delinsATT
ENST00000367615.8:c.378+272_378+274delinsATT	ENSP00000356587.4:n.378+272_378+274delinsATT
ENST00000367616.4:c.378+272_378+274delinsATT	ENSP00000356588.4:n.378+272_378+274delinsATT
NM_001297575.1:c.378+272_378+274delinsATT	NP_001284504.1:n.378+272_378+274delinsATT
NM_014625.3:c.378+272_378+274delinsATT , LRG_887t1:c.378+272_378+274delinsATT	NP_055440.1:n.378+272_378+274delinsATT
XM_005245483.2:c.275-4657_275-4655delinsATT	XP_005245540.1:n.275-4657_275-4655delinsATT
XM_006711529.2:c.378+272_378+274delinsATT	XP_006711592.1:n.378+272_378+274delinsATT
XM_005245483.3:c.275-4657_275-4655delinsATT	XP_005245540.1:n.275-4657_275-4655delinsATT
XM_017002298.1:c.378+272_378+274delinsATT	XP_016857787.1:n.378+272_378+274delinsATT
XM_017002299.1:c.378+272_378+274delinsATT	XP_016857788.1:n.378+272_378+274delinsATT
NM_001297575.2:c.378+272_378+274delinsATT	NP_001284504.1:n.378+272_378+274delinsATT
NM_014625.4:c.378+272_378+274delinsATT MANE Select	NP_055440.1:n.378+272_378+274delinsATT