Canonical Allele Identifier: CA2667736434

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132684725-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684726del , CM000665.2:g.132684726del	GRCh38
NC_000003.11:g.132403570del , CM000665.1:g.132403570del	GRCh37
NC_000003.10:g.133886260del	NCBI36
NG_008130.1:g.42707del
NG_008130.2:g.42707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1306del (NPHP3)	ENSP00000508078.1:n.*1306del
ENST00000337331.10:c.3398del (NPHP3) MANE Select	ENSP00000338766.5:p.Asp1133AlafsTer6
ENST00000337331.9:c.3398del (NPHP3)	ENSP00000338766.5:p.Asp1133AlafsTer6
ENST00000465756.5:c.*1306del (NPHP3)	ENSP00000419907.1:n.*1306del
ENST00000471702.2:c.*1389del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1389del
ENST00000474871.5:n.2597del (NPHP3)
ENST00000490993.5:n.4123del (NPHP3)
ENST00000493732.5:n.98del (NPHP3)
ENST00000632629.1:c.45del (NPHP3-ACAD11)
NM_153240.4:c.3398del (NPHP3)	NP_694972.3:p.Asp1133AlafsTer6
NR_037804.1:n.3404del (NPHP3-ACAD11)
NM_153240.5:c.3398del (NPHP3) MANE Select	NP_694972.3:p.Asp1133AlafsTer6