Canonical Allele Identifier: CA2758452605

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700494_132700500del , CM000665.2:g.132700494_132700500del	GRCh38
NC_000003.11:g.132419338_132419344del , CM000665.1:g.132419338_132419344del	GRCh37
NC_000003.10:g.133902028_133902034del	NCBI36
NG_008130.1:g.26933_26939del
NG_008130.2:g.26933_26939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-52_1335-46del (NPHP3)	ENSP00000508078.1:n.1335-52_1335-46del
ENST00000337331.10:c.1629-52_1629-46del (NPHP3) MANE Select	ENSP00000338766.5:n.1629-52_1629-46del
ENST00000337331.9:c.1629-52_1629-46del (NPHP3)	ENSP00000338766.5:n.1629-52_1629-46del
ENST00000465756.5:c.1335-52_1335-46del (NPHP3)	ENSP00000419907.1:n.1335-52_1335-46del
ENST00000469232.5:c.1444-52_1444-46del (NPHP3)	ENSP00000418664.1:n.1444-52_1444-46del
ENST00000471702.2:c.1629-52_1629-46del (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-52_1629-46del
ENST00000490993.5:n.1405-52_1405-46del (NPHP3)
NM_153240.4:c.1629-52_1629-46del (NPHP3)	NP_694972.3:n.1629-52_1629-46del
NR_037804.1:n.1733-52_1733-46del (NPHP3-ACAD11)
NM_153240.5:c.1629-52_1629-46del (NPHP3) MANE Select	NP_694972.3:n.1629-52_1629-46del