Canonical Allele Identifier: CA2667742336

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Linked Data

• gnomAD v4: 3-132721918-TGCTTCCCAAGGGTCTCCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132721921_132721939del , CM000665.2:g.132721921_132721939del	GRCh38
NC_000003.11:g.132440765_132440783del , CM000665.1:g.132440765_132440783del	GRCh37
NC_000003.10:g.133923455_133923473del	NCBI36
NG_008130.1:g.5496_5514del
NG_008130.2:g.5496_5514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.419_437del (NPHP3)	ENSP00000508409.1:p.Pro140HisfsTer24
ENST00000684294.1:c.99+320_99+338del (NPHP3)	ENSP00000508078.1:n.99+320_99+338del
ENST00000684756.1:n.116+26_116+44del (NPHP3)
ENST00000337331.10:c.393+26_393+44del (NPHP3) MANE Select	ENSP00000338766.5:n.393+26_393+44del
ENST00000337331.9:c.393+26_393+44del (NPHP3)	ENSP00000338766.5:n.393+26_393+44del
ENST00000383282.3:c.393+26_393+44del (NPHP3-ACAD11)	ENSP00000372769.2:n.393+26_393+44del
ENST00000465756.5:c.99+320_99+338del (NPHP3)	ENSP00000419907.1:n.99+320_99+338del
ENST00000469232.5:c.45+26_45+44del (NPHP3)	ENSP00000418664.1:n.45+26_45+44del
ENST00000471702.2:c.393+26_393+44del (NPHP3-ACAD11)	ENSP00000419763.1:n.393+26_393+44del
NM_153240.4:c.393+26_393+44del (NPHP3)	NP_694972.3:n.393+26_393+44del
NR_037804.1:n.497+26_497+44del (NPHP3-ACAD11)
NR_002811.2:n.172_190del (NPHP3-AS1)
NR_152743.1:n.172_190del (NPHP3-AS1)
NM_153240.5:c.393+26_393+44del (NPHP3) MANE Select	NP_694972.3:n.393+26_393+44del