Canonical Allele Identifier: CA2758453872

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132682094_132682104del , CM000665.2:g.132682094_132682104del	GRCh38
NC_000003.11:g.132400938_132400948del , CM000665.1:g.132400938_132400948del	GRCh37
NC_000003.10:g.133883628_133883638del	NCBI36
NG_008130.1:g.45329_45339del
NG_008130.2:g.45329_45339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1741-14_*1741-4del (NPHP3)	ENSP00000508078.1:n.*1741-14_*1741-4del
ENST00000337331.10:c.3813-14_3813-4del (NPHP3) MANE Select	ENSP00000338766.5:n.3813-14_3813-4del
ENST00000337331.9:c.3813-14_3813-4del (NPHP3)	ENSP00000338766.5:n.3813-14_3813-4del
ENST00000465756.5:c.*1721-14_*1721-4del (NPHP3)	ENSP00000419907.1:n.*1721-14_*1721-4del
ENST00000471702.2:c.*1804-14_*1804-4del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1804-14_*1804-4del
ENST00000474871.5:n.3012-14_3012-4del (NPHP3)
ENST00000490993.5:n.4538-14_4538-4del (NPHP3)
ENST00000493732.5:n.1111_1121del (NPHP3)
ENST00000512094.5:c.259-14_259-4del (NPHP3)	ENSP00000427666.1:n.259-14_259-4del
ENST00000632629.1:c.460-14_460-4del (NPHP3-ACAD11)
NM_153240.4:c.3813-14_3813-4del (NPHP3)	NP_694972.3:n.3813-14_3813-4del
NR_037804.1:n.3819-14_3819-4del (NPHP3-ACAD11)
NM_153240.5:c.3813-14_3813-4del (NPHP3) MANE Select	NP_694972.3:n.3813-14_3813-4del