Canonical Allele Identifier: CA1402652097

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689253_132689255delinsCAA , CM000665.2:g.132689253_132689255delinsCAA	GRCh38
NC_000003.11:g.132408097_132408099delinsCAA , CM000665.1:g.132408097_132408099delinsCAA	GRCh37
NC_000003.10:g.133890787_133890789delinsCAA	NCBI36
NG_008130.1:g.38178_38180delinsTTG
NG_008130.2:g.38178_38180delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*610_*612delinsTTG (NPHP3)	ENSP00000508078.1:n.*610_*612delinsTTG
ENST00000337331.10:c.2702_2704delinsTTG (NPHP3) MANE Select	ENSP00000338766.5:p.Phe901=
ENST00000337331.9:c.2702_2704delinsTTG (NPHP3)	ENSP00000338766.5:p.Phe901=
ENST00000465756.5:c.*610_*612delinsTTG (NPHP3)	ENSP00000419907.1:n.*610_*612delinsTTG
ENST00000471702.2:c.*693_*695delinsTTG (NPHP3-ACAD11)	ENSP00000419763.1:n.*693_*695delinsTTG
ENST00000474871.5:n.436_438delinsTTG (NPHP3)
ENST00000490993.5:n.3427_3429delinsTTG (NPHP3)
NM_153240.4:c.2702_2704delinsTTG (NPHP3)	NP_694972.3:p.Phe901=
NR_037804.1:n.2708_2710delinsTTG (NPHP3-ACAD11)
NM_153240.5:c.2702_2704delinsTTG (NPHP3) MANE Select	NP_694972.3:p.Phe901=