Canonical Allele Identifier: CA1053649562

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1939004861
• gnomAD v3: 3-132680787-AAT-A
• gnomAD v4: 3-132680787-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680790_132680791del , CM000665.2:g.132680790_132680791del	GRCh38
NC_000003.11:g.132399634_132399635del , CM000665.1:g.132399634_132399635del	GRCh37
NC_000003.10:g.133882324_133882325del	NCBI36
NG_008130.1:g.46644_46645del
NG_008130.2:g.46644_46645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1121_*1122del (NPHP3) MANE Select	ENSP00000338766.5:n.*1121_*1122del
ENST00000471702.2:c.*1980+1125_*1980+1126del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1125_*1980+1126del
ENST00000474871.5:n.4313_4314del (NPHP3)
ENST00000632629.1:c.636+1125_636+1126del (NPHP3-ACAD11)
NM_153240.4:c.*1121_*1122del (NPHP3)	NP_694972.3:n.*1121_*1122del
NR_037804.1:n.3995+1125_3995+1126del (NPHP3-ACAD11)
NM_153240.5:c.*1121_*1122del (NPHP3) MANE Select	NP_694972.3:n.*1121_*1122del