Canonical Allele Identifier: CA1402655971
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
NPHP3-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132721979_132721984delinsAGCCGC , CM000665.2:g.132721979_132721984delinsAGCCGC GRCh38
NC_000003.11:g.132440823_132440828delinsAGCCGC , CM000665.1:g.132440823_132440828delinsAGCCGC GRCh37
NC_000003.10:g.133923513_133923518delinsAGCCGC NCBI36
NG_008130.1:g.5449_5454delinsGCGGCT
NG_008130.2:g.5449_5454delinsGCGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000683570.1:c.372_377delinsGCGGCT (NPHP3) ENSP00000508409.1:p.Lys124=
ENST00000684294.1:c.99+273_99+278delinsGCGGCT (NPHP3) ENSP00000508078.1:n.99+273_99+278delinsGCGGCT
ENST00000684756.1:n.95_100delinsGCGGCT (NPHP3)
ENST00000337331.10:c.372_377delinsGCGGCT (NPHP3) MANE Select ENSP00000338766.5:p.Lys124=
ENST00000337331.9:c.372_377delinsGCGGCT (NPHP3) ENSP00000338766.5:p.Lys124=
ENST00000383282.3:c.372_377delinsGCGGCT (NPHP3-ACAD11) ENSP00000372769.2:p.Lys124=
ENST00000465756.5:c.99+273_99+278delinsGCGGCT (NPHP3) ENSP00000419907.1:n.99+273_99+278delinsGCGGCT
ENST00000469232.5:c.24_29delinsGCGGCT (NPHP3) ENSP00000418664.1:p.Lys8=
ENST00000471702.2:c.372_377delinsGCGGCT (NPHP3-ACAD11) ENSP00000419763.1:p.Lys124=
NM_153240.4:c.372_377delinsGCGGCT (NPHP3) NP_694972.3:p.Lys124=
NR_037804.1:n.476_481delinsGCGGCT (NPHP3-ACAD11)
NR_002811.2:n.230_235delinsAGCCGC (NPHP3-AS1)
NR_152743.1:n.230_235delinsAGCCGC (NPHP3-AS1)
NM_153240.5:c.372_377delinsGCGGCT (NPHP3) MANE Select NP_694972.3:p.Lys124=
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