Canonical Allele Identifier: CA2564518165

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689385_132689386insTTTTAAAGTGTGTTTTTCATTAAAGTACTGTTATTTGTTGAAACAGG , CM000665.2:g.132689385_132689386insTTTTAAAGTGTGTTTTTCATTAAAGTACTGTTATTTGTTGAAACAGG	GRCh38
NC_000003.11:g.132408229_132408230insTTTTAAAGTGTGTTTTTCATTAAAGTACTGTTATTTGTTGAAACAGG , CM000665.1:g.132408229_132408230insTTTTAAAGTGTGTTTTTCATTAAAGTACTGTTATTTGTTGAAACAGG	GRCh37
NC_000003.10:g.133890919_133890920insTTTTAAAGTGTGTTTTTCATTAAAGTACTGTTATTTGTTGAAACAGG	NCBI36
NG_008130.1:g.38047_38048insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA
NG_008130.2:g.38047_38048insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-123_*602-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3)	ENSP00000508078.1:n.*602-123_*602-122insCCTGTTTCAACAAATAACAGT...
ENST00000337331.10:c.2694-123_2694-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3) MANE Select	ENSP00000338766.5:n.2694-123_2694-122insCCTGTTTCAACAAATAACAGT...
ENST00000337331.9:c.2694-123_2694-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3)	ENSP00000338766.5:n.2694-123_2694-122insCCTGTTTCAACAAATAACAGT...
ENST00000465756.5:c.*602-123_*602-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3)	ENSP00000419907.1:n.*602-123_*602-122insCCTGTTTCAACAAATAACAGT...
ENST00000471702.2:c.*685-123_*685-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-123_*685-122insCCTGTTTCAACAAATAACAGT...
ENST00000474871.5:n.428-123_428-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3)
ENST00000490993.5:n.3419-123_3419-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3)
NM_153240.4:c.2694-123_2694-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3)	NP_694972.3:n.2694-123_2694-122insCCTGTTTCAACAAATAACAGTACTTTA...
NR_037804.1:n.2700-123_2700-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3-ACAD11)
NM_153240.5:c.2694-123_2694-122insCCTGTTTCAACAAATAACAGTACTTTAATGAAAAACACACTTTAAAA (NPHP3) MANE Select	NP_694972.3:n.2694-123_2694-122insCCTGTTTCAACAAATAACAGTACTTTA...