Canonical Allele Identifier: CA2333850792

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849224_35849225delinsGT , CM000681.2:g.35849224_35849225delinsGT	GRCh38
NC_000019.9:g.36340126_36340127delinsGT , CM000681.1:g.36340126_36340127delinsGT	GRCh37
NC_000019.8:g.41031966_41031967delinsGT	NCBI36
NG_013356.2:g.25063_25064delinsAC , LRG_693:g.25063_25064delinsAC
NG_051206.1:g.2590_2591delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+11_840+12delinsAC MANE Select	ENSP00000368190.4:n.840+11_840+12delinsAC
ENST00000353632.6:c.840+11_840+12delinsAC	ENSP00000343634.5:n.840+11_840+12delinsAC
ENST00000378910.9:c.840+11_840+12delinsAC	ENSP00000368190.4:n.840+11_840+12delinsAC
NM_004646.3:c.840+11_840+12delinsAC , LRG_693t1:c.840+11_840+12delinsAC	NP_004637.1:n.840+11_840+12delinsAC
NM_004646.4:c.840+11_840+12delinsAC MANE Select	NP_004637.1:n.840+11_840+12delinsAC