Canonical Allele Identifier: CA1402644343

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680748_132680750delinsCAA , CM000665.2:g.132680748_132680750delinsCAA	GRCh38
NC_000003.11:g.132399592_132399594delinsCAA , CM000665.1:g.132399592_132399594delinsCAA	GRCh37
NC_000003.10:g.133882282_133882284delinsCAA	NCBI36
NG_008130.1:g.46683_46685delinsTTG
NG_008130.2:g.46683_46685delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1160_*1162delinsTTG (NPHP3) MANE Select	ENSP00000338766.5:n.*1160_*1162delinsTTG
ENST00000471702.2:c.*1980+1164_*1980+1166delinsTTG (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1164_*1980+1166delinsTTG
ENST00000474871.5:n.4352_4354delinsTTG (NPHP3)
ENST00000632629.1:c.636+1164_636+1166delinsTTG (NPHP3-ACAD11)
NM_153240.4:c.*1160_*1162delinsTTG (NPHP3)	NP_694972.3:n.*1160_*1162delinsTTG
NR_037804.1:n.3995+1164_3995+1166delinsTTG (NPHP3-ACAD11)
NM_153240.5:c.*1160_*1162delinsTTG (NPHP3) MANE Select	NP_694972.3:n.*1160_*1162delinsTTG