Canonical Allele Identifier: CA2758454223

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689392_132689393insGAT , CM000665.2:g.132689392_132689393insGAT	GRCh38
NC_000003.11:g.132408236_132408237insGAT , CM000665.1:g.132408236_132408237insGAT	GRCh37
NC_000003.10:g.133890926_133890927insGAT	NCBI36
NG_008130.1:g.38040_38041insATC
NG_008130.2:g.38040_38041insATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-130_*602-129insATC (NPHP3)	ENSP00000508078.1:n.*602-130_*602-129insATC
ENST00000337331.10:c.2694-130_2694-129insATC (NPHP3) MANE Select	ENSP00000338766.5:n.2694-130_2694-129insATC
ENST00000337331.9:c.2694-130_2694-129insATC (NPHP3)	ENSP00000338766.5:n.2694-130_2694-129insATC
ENST00000465756.5:c.*602-130_*602-129insATC (NPHP3)	ENSP00000419907.1:n.*602-130_*602-129insATC
ENST00000471702.2:c.*685-130_*685-129insATC (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-130_*685-129insATC
ENST00000474871.5:n.428-130_428-129insATC (NPHP3)
ENST00000490993.5:n.3419-130_3419-129insATC (NPHP3)
NM_153240.4:c.2694-130_2694-129insATC (NPHP3)	NP_694972.3:n.2694-130_2694-129insATC
NR_037804.1:n.2700-130_2700-129insATC (NPHP3-ACAD11)
NM_153240.5:c.2694-130_2694-129insATC (NPHP3) MANE Select	NP_694972.3:n.2694-130_2694-129insATC