Canonical Allele Identifier: CA1402644294

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1939002578

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680724_132680727del , CM000665.2:g.132680724_132680727del	GRCh38
NC_000003.11:g.132399568_132399571del , CM000665.1:g.132399568_132399571del	GRCh37
NC_000003.10:g.133882258_133882261del	NCBI36
NG_008130.1:g.46710_46713del
NG_008130.2:g.46710_46713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1187_*1190del (NPHP3) MANE Select	ENSP00000338766.5:n.*1187_*1190del
ENST00000471702.2:c.*1980+1191_*1980+1194del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1191_*1980+1194del
ENST00000474871.5:n.4379_4382del (NPHP3)
ENST00000632629.1:c.636+1191_636+1194del (NPHP3-ACAD11)
NM_153240.4:c.*1187_*1190del (NPHP3)	NP_694972.3:n.*1187_*1190del
NR_037804.1:n.3995+1191_3995+1194del (NPHP3-ACAD11)
NM_153240.5:c.*1187_*1190del (NPHP3) MANE Select	NP_694972.3:n.*1187_*1190del