Canonical Allele Identifier: CA2758455335

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132722092_132722093insAGTA , CM000665.2:g.132722092_132722093insAGTA	GRCh38
NC_000003.11:g.132440936_132440937insAGTA , CM000665.1:g.132440936_132440937insAGTA	GRCh37
NC_000003.10:g.133923626_133923627insAGTA	NCBI36
NG_008130.1:g.5340_5341insTACT
NG_008130.2:g.5340_5341insTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.263_264insTACT (NPHP3)	ENSP00000508409.1:p.Ala89ThrfsTer?
ENST00000684294.1:c.99+164_99+165insTACT (NPHP3)	ENSP00000508078.1:n.99+164_99+165insTACT
ENST00000337331.10:c.263_264insTACT (NPHP3) MANE Select	ENSP00000338766.5:p.Ala89ThrfsTer?
ENST00000337331.9:c.263_264insTACT (NPHP3)	ENSP00000338766.5:p.Ala89ThrfsTer?
ENST00000383282.3:c.263_264insTACT (NPHP3-ACAD11)	ENSP00000372769.2:p.Ala89ThrfsTer?
ENST00000465756.5:c.99+164_99+165insTACT (NPHP3)	ENSP00000419907.1:n.99+164_99+165insTACT
ENST00000471702.2:c.263_264insTACT (NPHP3-ACAD11)	ENSP00000419763.1:p.Ala89ThrfsTer?
NM_153240.4:c.263_264insTACT (NPHP3)	NP_694972.3:p.Ala89ThrfsTer?
NR_037804.1:n.367_368insTACT (NPHP3-ACAD11)
NR_002811.2:n.343_344insAGTA (NPHP3-AS1)
NR_152743.1:n.343_344insAGTA (NPHP3-AS1)
NM_153240.5:c.263_264insTACT (NPHP3) MANE Select	NP_694972.3:p.Ala89ThrfsTer?