Canonical Allele Identifier: CA2667738338

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132689167-C-CTCATACTGCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689178_132689179insTTCATACTGCTT , CM000665.2:g.132689178_132689179insTTCATACTGCTT	GRCh38
NC_000003.11:g.132408022_132408023insTTCATACTGCTT , CM000665.1:g.132408022_132408023insTTCATACTGCTT	GRCh37
NC_000003.10:g.133890712_133890713insTTCATACTGCTT	NCBI36
NG_008130.1:g.38265_38266insAAAGCAGTATGA
NG_008130.2:g.38265_38266insAAAGCAGTATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*697_*698insAAAGCAGTATGA (NPHP3)	ENSP00000508078.1:n.*697_*698insAAAGCAGTATGA
ENST00000337331.10:c.2789_2790insAAAGCAGTATGA (NPHP3) MANE Select	ENSP00000338766.5:p.Glu930_Lys931insLysGlnTyrGlu
ENST00000337331.9:c.2789_2790insAAAGCAGTATGA (NPHP3)	ENSP00000338766.5:p.Glu930_Lys931insLysGlnTyrGlu
ENST00000465756.5:c.*697_*698insAAAGCAGTATGA (NPHP3)	ENSP00000419907.1:n.*697_*698insAAAGCAGTATGA
ENST00000471702.2:c.*780_*781insAAAGCAGTATGA (NPHP3-ACAD11)	ENSP00000419763.1:n.*780_*781insAAAGCAGTATGA
ENST00000474871.5:n.523_524insAAAGCAGTATGA (NPHP3)
ENST00000490993.5:n.3514_3515insAAAGCAGTATGA (NPHP3)
NM_153240.4:c.2789_2790insAAAGCAGTATGA (NPHP3)	NP_694972.3:p.Glu930_Lys931insLysGlnTyrGlu
NR_037804.1:n.2795_2796insAAAGCAGTATGA (NPHP3-ACAD11)
NM_153240.5:c.2789_2790insAAAGCAGTATGA (NPHP3) MANE Select	NP_694972.3:p.Glu930_Lys931insLysGlnTyrGlu