Canonical Allele Identifier: CA2667739621

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132700495-ACTGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700496_132700500del , CM000665.2:g.132700496_132700500del	GRCh38
NC_000003.11:g.132419340_132419344del , CM000665.1:g.132419340_132419344del	GRCh37
NC_000003.10:g.133902030_133902034del	NCBI36
NG_008130.1:g.26933_26937del
NG_008130.2:g.26933_26937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-52_1335-48del (NPHP3)	ENSP00000508078.1:n.1335-52_1335-48del
ENST00000337331.10:c.1629-52_1629-48del (NPHP3) MANE Select	ENSP00000338766.5:n.1629-52_1629-48del
ENST00000337331.9:c.1629-52_1629-48del (NPHP3)	ENSP00000338766.5:n.1629-52_1629-48del
ENST00000465756.5:c.1335-52_1335-48del (NPHP3)	ENSP00000419907.1:n.1335-52_1335-48del
ENST00000469232.5:c.1444-52_1444-48del (NPHP3)	ENSP00000418664.1:n.1444-52_1444-48del
ENST00000471702.2:c.1629-52_1629-48del (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-52_1629-48del
ENST00000490993.5:n.1405-52_1405-48del (NPHP3)
NM_153240.4:c.1629-52_1629-48del (NPHP3)	NP_694972.3:n.1629-52_1629-48del
NR_037804.1:n.1733-52_1733-48del (NPHP3-ACAD11)
NM_153240.5:c.1629-52_1629-48del (NPHP3) MANE Select	NP_694972.3:n.1629-52_1629-48del