Canonical Allele Identifier: CA2576758769

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842209dup , CM000681.2:g.35842209dup	GRCh38
NC_000019.9:g.36333111dup , CM000681.1:g.36333111dup	GRCh37
NC_000019.8:g.41024951dup	NCBI36
NG_013356.2:g.32079dup , LRG_693:g.32079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2578dup MANE Select	ENSP00000368190.4:p.Thr860AsnfsTer?
ENST00000353632.6:c.2578dup	ENSP00000343634.5:p.Thr860AsnfsTer?
ENST00000378910.9:c.2578dup	ENSP00000368190.4:p.Thr860AsnfsTer?
NM_004646.3:c.2578dup , LRG_693t1:c.2578dup	NP_004637.1:p.Thr860AsnfsTer?
NM_004646.4:c.2578dup MANE Select	NP_004637.1:p.Thr860AsnfsTer?