Canonical Allele Identifier: CA2758454154

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689340_132689351del , CM000665.2:g.132689340_132689351del	GRCh38
NC_000003.11:g.132408184_132408195del , CM000665.1:g.132408184_132408195del	GRCh37
NC_000003.10:g.133890874_133890885del	NCBI36
NG_008130.1:g.38082_38093del
NG_008130.2:g.38082_38093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-88_*602-77del (NPHP3)	ENSP00000508078.1:n.*602-88_*602-77del
ENST00000337331.10:c.2694-88_2694-77del (NPHP3) MANE Select	ENSP00000338766.5:n.2694-88_2694-77del
ENST00000337331.9:c.2694-88_2694-77del (NPHP3)	ENSP00000338766.5:n.2694-88_2694-77del
ENST00000465756.5:c.*602-88_*602-77del (NPHP3)	ENSP00000419907.1:n.*602-88_*602-77del
ENST00000471702.2:c.*685-88_*685-77del (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-88_*685-77del
ENST00000474871.5:n.428-88_428-77del (NPHP3)
ENST00000490993.5:n.3419-88_3419-77del (NPHP3)
NM_153240.4:c.2694-88_2694-77del (NPHP3)	NP_694972.3:n.2694-88_2694-77del
NR_037804.1:n.2700-88_2700-77del (NPHP3-ACAD11)
NM_153240.5:c.2694-88_2694-77del (NPHP3) MANE Select	NP_694972.3:n.2694-88_2694-77del