Canonical Allele Identifier: CA891862898

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 591966
• ClinVar RCV Id: RCV000723149
• dbSNP Id: rs1559998693

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681969del , CM000665.2:g.132681969del	GRCh38
NC_000003.11:g.132400813del , CM000665.1:g.132400813del	GRCh37
NC_000003.10:g.133883503del	NCBI36
NG_008130.1:g.45464del
NG_008130.2:g.45464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1862del (NPHP3)	ENSP00000508078.1:n.*1862del
ENST00000337331.10:c.3934del (NPHP3) MANE Select	ENSP00000338766.5:p.Thr1312ArgfsTer4
ENST00000337331.9:c.3934del (NPHP3)	ENSP00000338766.5:p.Thr1312ArgfsTer4
ENST00000465756.5:c.*1842del (NPHP3)	ENSP00000419907.1:n.*1842del
ENST00000471702.2:c.*1925del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1925del
ENST00000474871.5:n.3133del (NPHP3)
ENST00000490993.5:n.4659del (NPHP3)
ENST00000493732.5:n.1246del (NPHP3)
ENST00000512094.5:c.380del (NPHP3)	ENSP00000427666.1:n.380del
ENST00000632629.1:c.581del (NPHP3-ACAD11)
NM_153240.4:c.3934del (NPHP3)	NP_694972.3:p.Thr1312ArgfsTer4
NR_037804.1:n.3940del (NPHP3-ACAD11)
NM_153240.5:c.3934del (NPHP3) MANE Select	NP_694972.3:p.Thr1312ArgfsTer4