Canonical Allele Identifier: CA2758452578

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700185_132700186insAGTG , CM000665.2:g.132700185_132700186insAGTG	GRCh38
NC_000003.11:g.132419029_132419030insAGTG , CM000665.1:g.132419029_132419030insAGTG	GRCh37
NC_000003.10:g.133901719_133901720insAGTG	NCBI36
NG_008130.1:g.27247_27248insCACT
NG_008130.2:g.27247_27248insCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1450-125_1450-124insCACT (NPHP3)	ENSP00000508078.1:n.1450-125_1450-124insCACT
ENST00000337331.10:c.1744-125_1744-124insCACT (NPHP3) MANE Select	ENSP00000338766.5:n.1744-125_1744-124insCACT
ENST00000337331.9:c.1744-125_1744-124insCACT (NPHP3)	ENSP00000338766.5:n.1744-125_1744-124insCACT
ENST00000465756.5:c.1450-125_1450-124insCACT (NPHP3)	ENSP00000419907.1:n.1450-125_1450-124insCACT
ENST00000469232.5:c.1559-125_1559-124insCACT (NPHP3)	ENSP00000418664.1:n.1559-125_1559-124insCACT
ENST00000471702.2:c.1744-125_1744-124insCACT (NPHP3-ACAD11)	ENSP00000419763.1:n.1744-125_1744-124insCACT
ENST00000490993.5:n.1520-125_1520-124insCACT (NPHP3)
NM_153240.4:c.1744-125_1744-124insCACT (NPHP3)	NP_694972.3:n.1744-125_1744-124insCACT
NR_037804.1:n.1848-125_1848-124insCACT (NPHP3-ACAD11)
NM_153240.5:c.1744-125_1744-124insCACT (NPHP3) MANE Select	NP_694972.3:n.1744-125_1744-124insCACT