Canonical Allele Identifier: CA1402637984

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700503_132700504delinsTA , CM000665.2:g.132700503_132700504delinsTA	GRCh38
NC_000003.11:g.132419347_132419348delinsTA , CM000665.1:g.132419347_132419348delinsTA	GRCh37
NC_000003.10:g.133902037_133902038delinsTA	NCBI36
NG_008130.1:g.26929_26930delinsTA
NG_008130.2:g.26929_26930delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-56_1335-55delinsTA (NPHP3)	ENSP00000508078.1:n.1335-56_1335-55delinsTA
ENST00000337331.10:c.1629-56_1629-55delinsTA (NPHP3) MANE Select	ENSP00000338766.5:n.1629-56_1629-55delinsTA
ENST00000337331.9:c.1629-56_1629-55delinsTA (NPHP3)	ENSP00000338766.5:n.1629-56_1629-55delinsTA
ENST00000465756.5:c.1335-56_1335-55delinsTA (NPHP3)	ENSP00000419907.1:n.1335-56_1335-55delinsTA
ENST00000469232.5:c.1444-56_1444-55delinsTA (NPHP3)	ENSP00000418664.1:n.1444-56_1444-55delinsTA
ENST00000471702.2:c.1629-56_1629-55delinsTA (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-56_1629-55delinsTA
ENST00000490993.5:n.1405-56_1405-55delinsTA (NPHP3)
NM_153240.4:c.1629-56_1629-55delinsTA (NPHP3)	NP_694972.3:n.1629-56_1629-55delinsTA
NR_037804.1:n.1733-56_1733-55delinsTA (NPHP3-ACAD11)
NM_153240.5:c.1629-56_1629-55delinsTA (NPHP3) MANE Select	NP_694972.3:n.1629-56_1629-55delinsTA