Canonical Allele Identifier: CA2758453870

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132682092_132682093insACA , CM000665.2:g.132682092_132682093insACA	GRCh38
NC_000003.11:g.132400936_132400937insACA , CM000665.1:g.132400936_132400937insACA	GRCh37
NC_000003.10:g.133883626_133883627insACA	NCBI36
NG_008130.1:g.45340_45341insTGT
NG_008130.2:g.45340_45341insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1741-3_*1741-2insTGT (NPHP3)	ENSP00000508078.1:n.*1741-3_*1741-2insTGT
ENST00000337331.10:c.3813-3_3813-2insTGT (NPHP3) MANE Select	ENSP00000338766.5:n.3813-3_3813-2insTGT
ENST00000337331.9:c.3813-3_3813-2insTGT (NPHP3)	ENSP00000338766.5:n.3813-3_3813-2insTGT
ENST00000465756.5:c.*1721-3_*1721-2insTGT (NPHP3)	ENSP00000419907.1:n.*1721-3_*1721-2insTGT
ENST00000471702.2:c.*1804-3_*1804-2insTGT (NPHP3-ACAD11)	ENSP00000419763.1:n.*1804-3_*1804-2insTGT
ENST00000474871.5:n.3012-3_3012-2insTGT (NPHP3)
ENST00000490993.5:n.4538-3_4538-2insTGT (NPHP3)
ENST00000493732.5:n.1122_1123insTGT (NPHP3)
ENST00000512094.5:c.259-3_259-2insTGT (NPHP3)	ENSP00000427666.1:n.259-3_259-2insTGT
ENST00000632629.1:c.460-3_460-2insTGT (NPHP3-ACAD11)
NM_153240.4:c.3813-3_3813-2insTGT (NPHP3)	NP_694972.3:n.3813-3_3813-2insTGT
NR_037804.1:n.3819-3_3819-2insTGT (NPHP3-ACAD11)
NM_153240.5:c.3813-3_3813-2insTGT (NPHP3) MANE Select	NP_694972.3:n.3813-3_3813-2insTGT