Canonical Allele Identifier: CA2758454188

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689368_132689369insACAC , CM000665.2:g.132689368_132689369insACAC	GRCh38
NC_000003.11:g.132408212_132408213insACAC , CM000665.1:g.132408212_132408213insACAC	GRCh37
NC_000003.10:g.133890902_133890903insACAC	NCBI36
NG_008130.1:g.38064_38065insGTGT
NG_008130.2:g.38064_38065insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-106_*602-105insGTGT (NPHP3)	ENSP00000508078.1:n.*602-106_*602-105insGTGT
ENST00000337331.10:c.2694-106_2694-105insGTGT (NPHP3) MANE Select	ENSP00000338766.5:n.2694-106_2694-105insGTGT
ENST00000337331.9:c.2694-106_2694-105insGTGT (NPHP3)	ENSP00000338766.5:n.2694-106_2694-105insGTGT
ENST00000465756.5:c.*602-106_*602-105insGTGT (NPHP3)	ENSP00000419907.1:n.*602-106_*602-105insGTGT
ENST00000471702.2:c.*685-106_*685-105insGTGT (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-106_*685-105insGTGT
ENST00000474871.5:n.428-106_428-105insGTGT (NPHP3)
ENST00000490993.5:n.3419-106_3419-105insGTGT (NPHP3)
NM_153240.4:c.2694-106_2694-105insGTGT (NPHP3)	NP_694972.3:n.2694-106_2694-105insGTGT
NR_037804.1:n.2700-106_2700-105insGTGT (NPHP3-ACAD11)
NM_153240.5:c.2694-106_2694-105insGTGT (NPHP3) MANE Select	NP_694972.3:n.2694-106_2694-105insGTGT