Canonical Allele Identifier: CA2667739612

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132700468-C-CTTTATCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700471_132700472insATCGGTTT , CM000665.2:g.132700471_132700472insATCGGTTT	GRCh38
NC_000003.11:g.132419315_132419316insATCGGTTT , CM000665.1:g.132419315_132419316insATCGGTTT	GRCh37
NC_000003.10:g.133902005_133902006insATCGGTTT	NCBI36
NG_008130.1:g.26964_26965insCCGATAAA
NG_008130.2:g.26964_26965insCCGATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-21_1335-20insCCGATAAA (NPHP3)	ENSP00000508078.1:n.1335-21_1335-20insCCGATAAA
ENST00000337331.10:c.1629-21_1629-20insCCGATAAA (NPHP3) MANE Select	ENSP00000338766.5:n.1629-21_1629-20insCCGATAAA
ENST00000337331.9:c.1629-21_1629-20insCCGATAAA (NPHP3)	ENSP00000338766.5:n.1629-21_1629-20insCCGATAAA
ENST00000465756.5:c.1335-21_1335-20insCCGATAAA (NPHP3)	ENSP00000419907.1:n.1335-21_1335-20insCCGATAAA
ENST00000469232.5:c.1444-21_1444-20insCCGATAAA (NPHP3)	ENSP00000418664.1:n.1444-21_1444-20insCCGATAAA
ENST00000471702.2:c.1629-21_1629-20insCCGATAAA (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-21_1629-20insCCGATAAA
ENST00000490993.5:n.1405-21_1405-20insCCGATAAA (NPHP3)
NM_153240.4:c.1629-21_1629-20insCCGATAAA (NPHP3)	NP_694972.3:n.1629-21_1629-20insCCGATAAA
NR_037804.1:n.1733-21_1733-20insCCGATAAA (NPHP3-ACAD11)
NM_153240.5:c.1629-21_1629-20insCCGATAAA (NPHP3) MANE Select	NP_694972.3:n.1629-21_1629-20insCCGATAAA