Canonical Allele Identifier: CA2814252479

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848629dup , CM000681.2:g.35848629dup	GRCh38
NC_000019.9:g.36339531dup , CM000681.1:g.36339531dup	GRCh37
NC_000019.8:g.41031371dup	NCBI36
NG_013356.2:g.25663dup , LRG_693:g.25663dup
NG_051206.1:g.1995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1170+12dup MANE Select	ENSP00000368190.4:n.1170+12dup
ENST00000353632.6:c.1170+12dup	ENSP00000343634.5:n.1170+12dup
ENST00000378910.9:c.1170+12dup	ENSP00000368190.4:n.1170+12dup
ENST00000592132.1:n.177+12dup
NM_004646.3:c.1170+12dup , LRG_693t1:c.1170+12dup	NP_004637.1:n.1170+12dup
NM_004646.4:c.1170+12dup MANE Select	NP_004637.1:n.1170+12dup