Canonical Allele Identifier: CA2333850344

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848542_35848543delinsGC , CM000681.2:g.35848542_35848543delinsGC	GRCh38
NC_000019.9:g.36339444_36339445delinsGC , CM000681.1:g.36339444_36339445delinsGC	GRCh37
NC_000019.8:g.41031284_41031285delinsGC	NCBI36
NG_013356.2:g.25745_25746delinsGC , LRG_693:g.25745_25746delinsGC
NG_051206.1:g.1908_1909delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1170+94_1170+95delinsGC MANE Select	ENSP00000368190.4:n.1170+94_1170+95delinsGC
ENST00000353632.6:c.1170+94_1170+95delinsGC	ENSP00000343634.5:n.1170+94_1170+95delinsGC
ENST00000378910.9:c.1170+94_1170+95delinsGC	ENSP00000368190.4:n.1170+94_1170+95delinsGC
ENST00000592132.1:n.177+94_177+95delinsGC
NM_004646.3:c.1170+94_1170+95delinsGC , LRG_693t1:c.1170+94_1170+95delinsGC	NP_004637.1:n.1170+94_1170+95delinsGC
NM_004646.4:c.1170+94_1170+95delinsGC MANE Select	NP_004637.1:n.1170+94_1170+95delinsGC