Canonical Allele Identifier: CA1402637955

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1939578791

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700480_132700481insTAACTCTAAAGGTATAGTATCCCATCTTTTG , CM000665.2:g.132700480_132700481insTAACTCTAAAGGTATAGTATCCCATCTTTTG	GRCh38
NC_000003.11:g.132419324_132419325insTAACTCTAAAGGTATAGTATCCCATCTTTTG , CM000665.1:g.132419324_132419325insTAACTCTAAAGGTATAGTATCCCATCTTTTG	GRCh37
NC_000003.10:g.133902014_133902015insTAACTCTAAAGGTATAGTATCCCATCTTTTG	NCBI36
NG_008130.1:g.26952_26953insCAAAAGATGGGATACTATACCTTTAGAGTTA
NG_008130.2:g.26952_26953insCAAAAGATGGGATACTATACCTTTAGAGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-33_1335-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3)	ENSP00000508078.1:n.1335-33_1335-32insCAAAAGATGGGATACTATACCTT...
ENST00000337331.10:c.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3) MANE Select	ENSP00000338766.5:n.1629-33_1629-32insCAAAAGATGGGATACTATACCTT...
ENST00000337331.9:c.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3)	ENSP00000338766.5:n.1629-33_1629-32insCAAAAGATGGGATACTATACCTT...
ENST00000465756.5:c.1335-33_1335-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3)	ENSP00000419907.1:n.1335-33_1335-32insCAAAAGATGGGATACTATACCTT...
ENST00000469232.5:c.1444-33_1444-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3)	ENSP00000418664.1:n.1444-33_1444-32insCAAAAGATGGGATACTATACCTT...
ENST00000471702.2:c.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-33_1629-32insCAAAAGATGGGATACTATACCTT...
ENST00000490993.5:n.1405-33_1405-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3)
NM_153240.4:c.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3)	NP_694972.3:n.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGT...
NR_037804.1:n.1733-33_1733-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3-ACAD11)
NM_153240.5:c.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGTTA (NPHP3) MANE Select	NP_694972.3:n.1629-33_1629-32insCAAAAGATGGGATACTATACCTTTAGAGT...