Canonical Allele Identifier: CA2758454058

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689022_132689023del , CM000665.2:g.132689022_132689023del	GRCh38
NC_000003.11:g.132407866_132407867del , CM000665.1:g.132407866_132407867del	GRCh37
NC_000003.10:g.133890556_133890557del	NCBI36
NG_008130.1:g.38410_38411del
NG_008130.2:g.38410_38411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*791+51_*791+52del (NPHP3)	ENSP00000508078.1:n.*791+51_*791+52del
ENST00000337331.10:c.2883+51_2883+52del (NPHP3) MANE Select	ENSP00000338766.5:n.2883+51_2883+52del
ENST00000337331.9:c.2883+51_2883+52del (NPHP3)	ENSP00000338766.5:n.2883+51_2883+52del
ENST00000465756.5:c.*791+51_*791+52del (NPHP3)	ENSP00000419907.1:n.*791+51_*791+52del
ENST00000471702.2:c.*874+51_*874+52del (NPHP3-ACAD11)	ENSP00000419763.1:n.*874+51_*874+52del
ENST00000474871.5:n.617+51_617+52del (NPHP3)
ENST00000490993.5:n.3608+51_3608+52del (NPHP3)
NM_153240.4:c.2883+51_2883+52del (NPHP3)	NP_694972.3:n.2883+51_2883+52del
NR_037804.1:n.2889+51_2889+52del (NPHP3-ACAD11)
NM_153240.5:c.2883+51_2883+52del (NPHP3) MANE Select	NP_694972.3:n.2883+51_2883+52del