Canonical Allele Identifier: CA2758453123

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684789_132684790del , CM000665.2:g.132684789_132684790del	GRCh38
NC_000003.11:g.132403633_132403634del , CM000665.1:g.132403633_132403634del	GRCh37
NC_000003.10:g.133886323_133886324del	NCBI36
NG_008130.1:g.42643_42644del
NG_008130.2:g.42643_42644del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1242_*1243del (NPHP3)	ENSP00000508078.1:n.*1242_*1243del
ENST00000337331.10:c.3334_3335del (NPHP3) MANE Select	ENSP00000338766.5:p.Ala1112Ter
ENST00000337331.9:c.3334_3335del (NPHP3)	ENSP00000338766.5:p.Ala1112Ter
ENST00000465756.5:c.*1242_*1243del (NPHP3)	ENSP00000419907.1:n.*1242_*1243del
ENST00000471702.2:c.*1325_*1326del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1325_*1326del
ENST00000474871.5:n.2533_2534del (NPHP3)
ENST00000490993.5:n.4059_4060del (NPHP3)
ENST00000493732.5:n.34_35del (NPHP3)
NM_153240.4:c.3334_3335del (NPHP3)	NP_694972.3:p.Ala1112Ter
NR_037804.1:n.3340_3341del (NPHP3-ACAD11)
NM_153240.5:c.3334_3335del (NPHP3) MANE Select	NP_694972.3:p.Ala1112Ter