Canonical Allele Identifier: CA2758453127
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684797del , CM000665.2:g.132684797del GRCh38
NC_000003.11:g.132403641del , CM000665.1:g.132403641del GRCh37
NC_000003.10:g.133886331del NCBI36
NG_008130.1:g.42636del
NG_008130.2:g.42636del

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.*1238-3del (NPHP3) ENSP00000508078.1:n.*1238-3del
ENST00000337331.10:c.3330-3del (NPHP3) MANE Select ENSP00000338766.5:n.3330-3del
ENST00000337331.9:c.3330-3del (NPHP3) ENSP00000338766.5:n.3330-3del
ENST00000465756.5:c.*1238-3del (NPHP3) ENSP00000419907.1:n.*1238-3del
ENST00000471702.2:c.*1321-3del (NPHP3-ACAD11) ENSP00000419763.1:n.*1321-3del
ENST00000474871.5:n.2526del (NPHP3)
ENST00000490993.5:n.4055-3del (NPHP3)
ENST00000493732.5:n.27del (NPHP3)
NM_153240.4:c.3330-3del (NPHP3) NP_694972.3:n.3330-3del
NR_037804.1:n.3336-3del (NPHP3-ACAD11)
NM_153240.5:c.3330-3del (NPHP3) MANE Select NP_694972.3:n.3330-3del
Search 100 bp 5'
Search 100 bp 3'