Canonical Allele Identifier: CA2758454035

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132688963_132688977del , CM000665.2:g.132688963_132688977del	GRCh38
NC_000003.11:g.132407807_132407821del , CM000665.1:g.132407807_132407821del	GRCh37
NC_000003.10:g.133890497_133890511del	NCBI36
NG_008130.1:g.38457_38471del
NG_008130.2:g.38457_38471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*792-85_*792-71del (NPHP3)	ENSP00000508078.1:n.*792-85_*792-71del
ENST00000337331.10:c.2884-85_2884-71del (NPHP3) MANE Select	ENSP00000338766.5:n.2884-85_2884-71del
ENST00000337331.9:c.2884-85_2884-71del (NPHP3)	ENSP00000338766.5:n.2884-85_2884-71del
ENST00000465756.5:c.*792-85_*792-71del (NPHP3)	ENSP00000419907.1:n.*792-85_*792-71del
ENST00000471702.2:c.*875-85_*875-71del (NPHP3-ACAD11)	ENSP00000419763.1:n.*875-85_*875-71del
ENST00000474871.5:n.618-85_618-71del (NPHP3)
ENST00000490993.5:n.3609-85_3609-71del (NPHP3)
NM_153240.4:c.2884-85_2884-71del (NPHP3)	NP_694972.3:n.2884-85_2884-71del
NR_037804.1:n.2890-85_2890-71del (NPHP3-ACAD11)
NM_153240.5:c.2884-85_2884-71del (NPHP3) MANE Select	NP_694972.3:n.2884-85_2884-71del