Canonical Allele Identifier: CA1402637714

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700314_132700315delinsCA , CM000665.2:g.132700314_132700315delinsCA	GRCh38
NC_000003.11:g.132419158_132419159delinsCA , CM000665.1:g.132419158_132419159delinsCA	GRCh37
NC_000003.10:g.133901848_133901849delinsCA	NCBI36
NG_008130.1:g.27118_27119delinsTG
NG_008130.2:g.27118_27119delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1449+19_1449+20delinsTG (NPHP3)	ENSP00000508078.1:n.1449+19_1449+20delinsTG
ENST00000337331.10:c.1743+19_1743+20delinsTG (NPHP3) MANE Select	ENSP00000338766.5:n.1743+19_1743+20delinsTG
ENST00000337331.9:c.1743+19_1743+20delinsTG (NPHP3)	ENSP00000338766.5:n.1743+19_1743+20delinsTG
ENST00000465756.5:c.1449+19_1449+20delinsTG (NPHP3)	ENSP00000419907.1:n.1449+19_1449+20delinsTG
ENST00000469232.5:c.1558+19_1558+20delinsTG (NPHP3)	ENSP00000418664.1:n.1558+19_1558+20delinsTG
ENST00000471702.2:c.1743+19_1743+20delinsTG (NPHP3-ACAD11)	ENSP00000419763.1:n.1743+19_1743+20delinsTG
ENST00000490993.5:n.1519+19_1519+20delinsTG (NPHP3)
NM_153240.4:c.1743+19_1743+20delinsTG (NPHP3)	NP_694972.3:n.1743+19_1743+20delinsTG
NR_037804.1:n.1847+19_1847+20delinsTG (NPHP3-ACAD11)
NM_153240.5:c.1743+19_1743+20delinsTG (NPHP3) MANE Select	NP_694972.3:n.1743+19_1743+20delinsTG