Canonical Allele Identifier: CA2841522958

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850949_35850950del , CM000681.2:g.35850949_35850950del	GRCh38
NC_000019.9:g.36341851_36341852del , CM000681.1:g.36341851_36341852del	GRCh37
NC_000019.8:g.41033691_41033692del	NCBI36
NG_013356.2:g.23339_23340del , LRG_693:g.23339_23340del
NG_051206.1:g.4315_4316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.526+12_526+13del MANE Select	ENSP00000368190.4:n.526+12_526+13del
ENST00000353632.6:c.526+12_526+13del	ENSP00000343634.5:n.526+12_526+13del
ENST00000378910.9:c.526+12_526+13del	ENSP00000368190.4:n.526+12_526+13del
NM_004646.3:c.526+12_526+13del , LRG_693t1:c.526+12_526+13del	NP_004637.1:n.526+12_526+13del
NM_004646.4:c.526+12_526+13del MANE Select	NP_004637.1:n.526+12_526+13del