Canonical Allele Identifier: CA2333850790

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849223_35849224delinsCG , CM000681.2:g.35849223_35849224delinsCG	GRCh38
NC_000019.9:g.36340125_36340126delinsCG , CM000681.1:g.36340125_36340126delinsCG	GRCh37
NC_000019.8:g.41031965_41031966delinsCG	NCBI36
NG_013356.2:g.25064_25065delinsCG , LRG_693:g.25064_25065delinsCG
NG_051206.1:g.2589_2590delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+12_840+13delinsCG MANE Select	ENSP00000368190.4:n.840+12_840+13delinsCG
ENST00000353632.6:c.840+12_840+13delinsCG	ENSP00000343634.5:n.840+12_840+13delinsCG
ENST00000378910.9:c.840+12_840+13delinsCG	ENSP00000368190.4:n.840+12_840+13delinsCG
NM_004646.3:c.840+12_840+13delinsCG , LRG_693t1:c.840+12_840+13delinsCG	NP_004637.1:n.840+12_840+13delinsCG
NM_004646.4:c.840+12_840+13delinsCG MANE Select	NP_004637.1:n.840+12_840+13delinsCG