Canonical Allele Identifier: CA2584604351

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35850895-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850902_35850903del , CM000681.2:g.35850902_35850903del	GRCh38
NC_000019.9:g.36341804_36341805del , CM000681.1:g.36341804_36341805del	GRCh37
NC_000019.8:g.41033644_41033645del	NCBI36
NG_013356.2:g.23391_23392del , LRG_693:g.23391_23392del
NG_051206.1:g.4268_4269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.526+64_526+65del MANE Select	ENSP00000368190.4:n.526+64_526+65del
ENST00000353632.6:c.526+64_526+65del	ENSP00000343634.5:n.526+64_526+65del
ENST00000378910.9:c.526+64_526+65del	ENSP00000368190.4:n.526+64_526+65del
NM_004646.3:c.526+64_526+65del , LRG_693t1:c.526+64_526+65del	NP_004637.1:n.526+64_526+65del
NM_004646.4:c.526+64_526+65del MANE Select	NP_004637.1:n.526+64_526+65del