Canonical Allele Identifier: CA1139658271

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Linked Data

• ClinVar Variation Id: 974440
• ClinVar RCV Id: RCV001281194
• dbSNP Id: rs1940240492

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132721980_132721984del , CM000665.2:g.132721980_132721984del	GRCh38
NC_000003.11:g.132440824_132440828del , CM000665.1:g.132440824_132440828del	GRCh37
NC_000003.10:g.133923514_133923518del	NCBI36
NG_008130.1:g.5449_5453del
NG_008130.2:g.5449_5453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.372_376del (NPHP3)	ENSP00000508409.1:p.Lys124AsnfsTer?
ENST00000684294.1:c.99+273_99+277del (NPHP3)	ENSP00000508078.1:n.99+273_99+277del
ENST00000684756.1:n.95_99del (NPHP3)
ENST00000337331.10:c.372_376del (NPHP3) MANE Select	ENSP00000338766.5:p.Lys124AsnfsTer?
ENST00000337331.9:c.372_376del (NPHP3)	ENSP00000338766.5:p.Lys124AsnfsTer?
ENST00000383282.3:c.372_376del (NPHP3-ACAD11)	ENSP00000372769.2:p.Lys124AsnfsTer?
ENST00000465756.5:c.99+273_99+277del (NPHP3)	ENSP00000419907.1:n.99+273_99+277del
ENST00000469232.5:c.24_28del (NPHP3)	ENSP00000418664.1:p.Lys8AsnfsTer?
ENST00000471702.2:c.372_376del (NPHP3-ACAD11)	ENSP00000419763.1:p.Lys124AsnfsTer?
NM_153240.4:c.372_376del (NPHP3)	NP_694972.3:p.Lys124AsnfsTer?
NR_037804.1:n.476_480del (NPHP3-ACAD11)
NR_002811.2:n.231_235del (NPHP3-AS1)
NR_152743.1:n.231_235del (NPHP3-AS1)
NM_153240.5:c.372_376del (NPHP3) MANE Select	NP_694972.3:p.Lys124AsnfsTer?