Canonical Allele Identifier: CA2832542417

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700425dup , CM000665.2:g.132700425dup	GRCh38
NC_000003.11:g.132419269dup , CM000665.1:g.132419269dup	GRCh37
NC_000003.10:g.133901959dup	NCBI36
NG_008130.1:g.27012dup
NG_008130.2:g.27012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1362dup (NPHP3)	ENSP00000508078.1:p.Asn455GlnfsTer24
ENST00000337331.10:c.1656dup (NPHP3) MANE Select	ENSP00000338766.5:p.Asn553GlnfsTer24
ENST00000337331.9:c.1656dup (NPHP3)	ENSP00000338766.5:p.Asn553GlnfsTer24
ENST00000465756.5:c.1362dup (NPHP3)	ENSP00000419907.1:p.Asn455GlnfsTer24
ENST00000469232.5:c.1471dup (NPHP3)	ENSP00000418664.1:n.1471dup
ENST00000471702.2:c.1656dup (NPHP3-ACAD11)	ENSP00000419763.1:p.Asn553GlnfsTer24
ENST00000490993.5:n.1432dup (NPHP3)
NM_153240.4:c.1656dup (NPHP3)	NP_694972.3:p.Asn553GlnfsTer24
NR_037804.1:n.1760dup (NPHP3-ACAD11)
NM_153240.5:c.1656dup (NPHP3) MANE Select	NP_694972.3:p.Asn553GlnfsTer24