Canonical Allele Identifier: CA10617281
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 343364
ClinVar RCV Id: RCV000296788 RCV000330634 RCV000387487
dbSNP Id: rs886057998
gnomAD v2: 3-132400099-A-AT
gnomAD v3: 3-132681255-A-AT
gnomAD v4: 3-132681255-A-AT
MyVariant Identifiers: chr3:g.132400100dupT (hg19) chr3:g.132400102delinsTC (hg19) chr3:g.132400099_132400100insT (hg19) chr3:g.132681256dupT (hg38) chr3:g.132681258delinsTC (hg38) chr3:g.132681255_132681256insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132681257dup , CM000665.2:g.132681257dup GRCh38
NC_000003.11:g.132400101dup , CM000665.1:g.132400101dup GRCh37
NC_000003.10:g.133882791dup NCBI36
NG_008130.1:g.46177dup
NG_008130.2:g.46177dup

Transcript Alleles

HGVS Amino-acid change
ENST00000337331.10:c.*654dup (NPHP3) MANE Select ENSP00000338766.5:n.*654dup
ENST00000471702.2:c.*1980+658dup (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+658dup
ENST00000474871.5:n.3846dup (NPHP3)
ENST00000632629.1:c.636+658dup (NPHP3-ACAD11)
NM_153240.4:c.*654dup (NPHP3) NP_694972.3:n.*654dup
NR_037804.1:n.3995+658dup (NPHP3-ACAD11)
NM_153240.5:c.*654dup (NPHP3) MANE Select NP_694972.3:n.*654dup
Search 100 bp 5'
Search 100 bp 3'