Canonical Allele Identifier: CA1402651912

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689073_132689077delinsCCTGA , CM000665.2:g.132689073_132689077delinsCCTGA	GRCh38
NC_000003.11:g.132407917_132407921delinsCCTGA , CM000665.1:g.132407917_132407921delinsCCTGA	GRCh37
NC_000003.10:g.133890607_133890611delinsCCTGA	NCBI36
NG_008130.1:g.38356_38360delinsTCAGG
NG_008130.2:g.38356_38360delinsTCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*788_*791+1delinsTCAGG (NPHP3)
ENST00000337331.10:c.2880_2883+1delinsTCAGG (NPHP3)
ENST00000337331.9:c.2880_2883+1delinsTCAGG (NPHP3)
ENST00000465756.5:c.*788_*791+1delinsTCAGG (NPHP3)
ENST00000471702.2:c.*871_*874+1delinsTCAGG (NPHP3-ACAD11)
ENST00000474871.5:n.614_617+1delinsTCAGG (NPHP3)
ENST00000490993.5:n.3605_3608+1delinsTCAGG (NPHP3)
NM_153240.4:c.2880_2883+1delinsTCAGG (NPHP3)
NR_037804.1:n.2886_2889+1delinsTCAGG (NPHP3-ACAD11)
NM_153240.5:c.2880_2883+1delinsTCAGG (NPHP3)