Canonical Allele Identifier: CA2758452591

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700433_132700434insACA , CM000665.2:g.132700433_132700434insACA	GRCh38
NC_000003.11:g.132419277_132419278insACA , CM000665.1:g.132419277_132419278insACA	GRCh37
NC_000003.10:g.133901967_133901968insACA	NCBI36
NG_008130.1:g.26999_27000insTGT
NG_008130.2:g.26999_27000insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1349_1350insTGT (NPHP3)	ENSP00000508078.1:p.Gln450delinsHisVal
ENST00000337331.10:c.1643_1644insTGT (NPHP3) MANE Select	ENSP00000338766.5:p.Gln548delinsHisVal
ENST00000337331.9:c.1643_1644insTGT (NPHP3)	ENSP00000338766.5:p.Gln548delinsHisVal
ENST00000465756.5:c.1349_1350insTGT (NPHP3)	ENSP00000419907.1:p.Gln450delinsHisVal
ENST00000469232.5:c.1458_1459insTGT (NPHP3)	ENSP00000418664.1:n.1458_1459insTGT
ENST00000471702.2:c.1643_1644insTGT (NPHP3-ACAD11)	ENSP00000419763.1:p.Gln548delinsHisVal
ENST00000490993.5:n.1419_1420insTGT (NPHP3)
NM_153240.4:c.1643_1644insTGT (NPHP3)	NP_694972.3:p.Gln548delinsHisVal
NR_037804.1:n.1747_1748insTGT (NPHP3-ACAD11)
NM_153240.5:c.1643_1644insTGT (NPHP3) MANE Select	NP_694972.3:p.Gln548delinsHisVal