Canonical Allele Identifier: CA1402652189

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689333_132689337delinsGAATT , CM000665.2:g.132689333_132689337delinsGAATT	GRCh38
NC_000003.11:g.132408177_132408181delinsGAATT , CM000665.1:g.132408177_132408181delinsGAATT	GRCh37
NC_000003.10:g.133890867_133890871delinsGAATT	NCBI36
NG_008130.1:g.38096_38100delinsAATTC
NG_008130.2:g.38096_38100delinsAATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-74_*602-70delinsAATTC (NPHP3)	ENSP00000508078.1:n.*602-74_*602-70delinsAATTC
ENST00000337331.10:c.2694-74_2694-70delinsAATTC (NPHP3) MANE Select	ENSP00000338766.5:n.2694-74_2694-70delinsAATTC
ENST00000337331.9:c.2694-74_2694-70delinsAATTC (NPHP3)	ENSP00000338766.5:n.2694-74_2694-70delinsAATTC
ENST00000465756.5:c.*602-74_*602-70delinsAATTC (NPHP3)	ENSP00000419907.1:n.*602-74_*602-70delinsAATTC
ENST00000471702.2:c.*685-74_*685-70delinsAATTC (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-74_*685-70delinsAATTC
ENST00000474871.5:n.428-74_428-70delinsAATTC (NPHP3)
ENST00000490993.5:n.3419-74_3419-70delinsAATTC (NPHP3)
NM_153240.4:c.2694-74_2694-70delinsAATTC (NPHP3)	NP_694972.3:n.2694-74_2694-70delinsAATTC
NR_037804.1:n.2700-74_2700-70delinsAATTC (NPHP3-ACAD11)
NM_153240.5:c.2694-74_2694-70delinsAATTC (NPHP3) MANE Select	NP_694972.3:n.2694-74_2694-70delinsAATTC