Canonical Allele Identifier: CA2758454235

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689403_132689404insACAA , CM000665.2:g.132689403_132689404insACAA	GRCh38
NC_000003.11:g.132408247_132408248insACAA , CM000665.1:g.132408247_132408248insACAA	GRCh37
NC_000003.10:g.133890937_133890938insACAA	NCBI36
NG_008130.1:g.38029_38030insTTGT
NG_008130.2:g.38029_38030insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*602-141_*602-140insTTGT (NPHP3)	ENSP00000508078.1:n.*602-141_*602-140insTTGT
ENST00000337331.10:c.2694-141_2694-140insTTGT (NPHP3) MANE Select	ENSP00000338766.5:n.2694-141_2694-140insTTGT
ENST00000337331.9:c.2694-141_2694-140insTTGT (NPHP3)	ENSP00000338766.5:n.2694-141_2694-140insTTGT
ENST00000465756.5:c.*602-141_*602-140insTTGT (NPHP3)	ENSP00000419907.1:n.*602-141_*602-140insTTGT
ENST00000471702.2:c.*685-141_*685-140insTTGT (NPHP3-ACAD11)	ENSP00000419763.1:n.*685-141_*685-140insTTGT
ENST00000474871.5:n.428-141_428-140insTTGT (NPHP3)
ENST00000490993.5:n.3419-141_3419-140insTTGT (NPHP3)
NM_153240.4:c.2694-141_2694-140insTTGT (NPHP3)	NP_694972.3:n.2694-141_2694-140insTTGT
NR_037804.1:n.2700-141_2700-140insTTGT (NPHP3-ACAD11)
NM_153240.5:c.2694-141_2694-140insTTGT (NPHP3) MANE Select	NP_694972.3:n.2694-141_2694-140insTTGT