Canonical Allele Identifier: CA2758453131

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684808_132684812del , CM000665.2:g.132684808_132684812del	GRCh38
NC_000003.11:g.132403652_132403656del , CM000665.1:g.132403652_132403656del	GRCh37
NC_000003.10:g.133886342_133886346del	NCBI36
NG_008130.1:g.42621_42625del
NG_008130.2:g.42621_42625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1238-18_*1238-14del (NPHP3)	ENSP00000508078.1:n.*1238-18_*1238-14del
ENST00000337331.10:c.3330-18_3330-14del (NPHP3) MANE Select	ENSP00000338766.5:n.3330-18_3330-14del
ENST00000337331.9:c.3330-18_3330-14del (NPHP3)	ENSP00000338766.5:n.3330-18_3330-14del
ENST00000465756.5:c.*1238-18_*1238-14del (NPHP3)	ENSP00000419907.1:n.*1238-18_*1238-14del
ENST00000471702.2:c.*1321-18_*1321-14del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1321-18_*1321-14del
ENST00000474871.5:n.2511_2515del (NPHP3)
ENST00000490993.5:n.4055-18_4055-14del (NPHP3)
ENST00000493732.5:n.12_16del (NPHP3)
NM_153240.4:c.3330-18_3330-14del (NPHP3)	NP_694972.3:n.3330-18_3330-14del
NR_037804.1:n.3336-18_3336-14del (NPHP3-ACAD11)
NM_153240.5:c.3330-18_3330-14del (NPHP3) MANE Select	NP_694972.3:n.3330-18_3330-14del