Canonical Allele Identifier: CA10617282
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 343365
ClinVar RCV Id: RCV000281299 RCV000338636 RCV000372409
dbSNP Id: rs886057999
gnomAD v3: 3-132681256-TTC-T
gnomAD v4: 3-132681256-TTC-T
MyVariant Identifiers: chr3:g.132400101_132400102del (hg19) chr3:g.132681257_132681258del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132681258_132681259del , CM000665.2:g.132681258_132681259del GRCh38
NC_000003.11:g.132400102_132400103del , CM000665.1:g.132400102_132400103del GRCh37
NC_000003.10:g.133882792_133882793del NCBI36
NG_008130.1:g.46175_46176del
NG_008130.2:g.46175_46176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337331.10:c.*652_*653del (NPHP3) MANE Select ENSP00000338766.5:n.*652_*653del
ENST00000471702.2:c.*1980+656_*1980+657del (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+656_*1980+657del
ENST00000474871.5:n.3844_3845del (NPHP3)
ENST00000632629.1:c.636+656_636+657del (NPHP3-ACAD11)
NM_153240.4:c.*652_*653del (NPHP3) NP_694972.3:n.*652_*653del
NR_037804.1:n.3995+656_3995+657del (NPHP3-ACAD11)
NM_153240.5:c.*652_*653del (NPHP3) MANE Select NP_694972.3:n.*652_*653del
Search 100 bp 5'
Search 100 bp 3'