Canonical Allele Identifier: CA2667736432
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

gnomAD v4: 3-132684680-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684684del , CM000665.2:g.132684684del GRCh38
NC_000003.11:g.132403528del , CM000665.1:g.132403528del GRCh37
NC_000003.10:g.133886218del NCBI36
NG_008130.1:g.42752del
NG_008130.2:g.42752del

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.*1351del (NPHP3) ENSP00000508078.1:n.*1351del
ENST00000337331.10:c.3443del (NPHP3) MANE Select ENSP00000338766.5:p.Lys1148ArgfsTer15
ENST00000337331.9:c.3443del (NPHP3) ENSP00000338766.5:p.Lys1148ArgfsTer15
ENST00000465756.5:c.*1351del (NPHP3) ENSP00000419907.1:n.*1351del
ENST00000471702.2:c.*1434del (NPHP3-ACAD11) ENSP00000419763.1:n.*1434del
ENST00000474871.5:n.2642del (NPHP3)
ENST00000490993.5:n.4168del (NPHP3)
ENST00000493732.5:n.143del (NPHP3)
ENST00000512094.5:c.5del (NPHP3) ENSP00000427666.1:p.Lys2ArgfsTer15
ENST00000632629.1:c.90del (NPHP3-ACAD11)
NM_153240.4:c.3443del (NPHP3) NP_694972.3:p.Lys1148ArgfsTer15
NR_037804.1:n.3449del (NPHP3-ACAD11)
NM_153240.5:c.3443del (NPHP3) MANE Select NP_694972.3:p.Lys1148ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'