Canonical Allele Identifier: CA2667739594

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132700321-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700324del , CM000665.2:g.132700324del	GRCh38
NC_000003.11:g.132419168del , CM000665.1:g.132419168del	GRCh37
NC_000003.10:g.133901858del	NCBI36
NG_008130.1:g.27111del
NG_008130.2:g.27111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1449+12del (NPHP3)	ENSP00000508078.1:n.1449+12del
ENST00000337331.10:c.1743+12del (NPHP3) MANE Select	ENSP00000338766.5:n.1743+12del
ENST00000337331.9:c.1743+12del (NPHP3)	ENSP00000338766.5:n.1743+12del
ENST00000465756.5:c.1449+12del (NPHP3)	ENSP00000419907.1:n.1449+12del
ENST00000469232.5:c.1558+12del (NPHP3)	ENSP00000418664.1:n.1558+12del
ENST00000471702.2:c.1743+12del (NPHP3-ACAD11)	ENSP00000419763.1:n.1743+12del
ENST00000490993.5:n.1519+12del (NPHP3)
NM_153240.4:c.1743+12del (NPHP3)	NP_694972.3:n.1743+12del
NR_037804.1:n.1847+12del (NPHP3-ACAD11)
NM_153240.5:c.1743+12del (NPHP3) MANE Select	NP_694972.3:n.1743+12del