Canonical Allele Identifier: CA2758454122

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689299_132689300insAC , CM000665.2:g.132689299_132689300insAC	GRCh38
NC_000003.11:g.132408143_132408144insAC , CM000665.1:g.132408143_132408144insAC	GRCh37
NC_000003.10:g.133890833_133890834insAC	NCBI36
NG_008130.1:g.38133_38134insGT
NG_008130.2:g.38133_38134insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-37_*602-36insGT (NPHP3)	ENSP00000508078.1:n.*602-37_*602-36insGT
ENST00000337331.10:c.2694-37_2694-36insGT (NPHP3) MANE Select	ENSP00000338766.5:n.2694-37_2694-36insGT
ENST00000337331.9:c.2694-37_2694-36insGT (NPHP3)	ENSP00000338766.5:n.2694-37_2694-36insGT
ENST00000465756.5:c.*602-37_*602-36insGT (NPHP3)	ENSP00000419907.1:n.*602-37_*602-36insGT
ENST00000471702.2:c.*685-37_*685-36insGT (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-37_*685-36insGT
ENST00000474871.5:n.428-37_428-36insGT (NPHP3)
ENST00000490993.5:n.3419-37_3419-36insGT (NPHP3)
NM_153240.4:c.2694-37_2694-36insGT (NPHP3)	NP_694972.3:n.2694-37_2694-36insGT
NR_037804.1:n.2700-37_2700-36insGT (NPHP3-ACAD11)
NM_153240.5:c.2694-37_2694-36insGT (NPHP3) MANE Select	NP_694972.3:n.2694-37_2694-36insGT