Canonical Allele Identifier: CA632776802
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1187802299
gnomAD v2: 19-36341857-ACT-A
gnomAD v4: 19-35850955-ACT-A
MyVariant Identifiers: chr19:g.36341858_36341859del (hg19) chr19:g.35850956_35850957del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850957_35850958del , CM000681.2:g.35850957_35850958del GRCh38
NC_000019.9:g.36341859_36341860del , CM000681.1:g.36341859_36341860del GRCh37
NC_000019.8:g.41033699_41033700del NCBI36
NG_013356.2:g.23331_23332del , LRG_693:g.23331_23332del
NG_051206.1:g.4323_4324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.526+4_526+5del MANE Select ENSP00000368190.4:n.526+4_526+5del
ENST00000353632.6:c.526+4_526+5del ENSP00000343634.5:n.526+4_526+5del
ENST00000378910.9:c.526+4_526+5del ENSP00000368190.4:n.526+4_526+5del
NM_004646.3:c.526+4_526+5del , LRG_693t1:c.526+4_526+5del NP_004637.1:n.526+4_526+5del
NM_004646.4:c.526+4_526+5del MANE Select NP_004637.1:n.526+4_526+5del
Search 100 bp 5'
Search 100 bp 3'