Canonical Allele Identifier: CA2758452634

Gene: NPHP3 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700560_132700561insACA , CM000665.2:g.132700560_132700561insACA	GRCh38
NC_000003.11:g.132419404_132419405insACA , CM000665.1:g.132419404_132419405insACA	GRCh37
NC_000003.10:g.133902094_133902095insACA	NCBI36
NG_008130.1:g.26872_26873insTGT
NG_008130.2:g.26872_26873insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-113_1335-112insTGT (NPHP3)	ENSP00000508078.1:n.1335-113_1335-112insTGT
ENST00000337331.10:c.1629-113_1629-112insTGT (NPHP3) MANE Select	ENSP00000338766.5:n.1629-113_1629-112insTGT
ENST00000337331.9:c.1629-113_1629-112insTGT (NPHP3)	ENSP00000338766.5:n.1629-113_1629-112insTGT
ENST00000465756.5:c.1335-113_1335-112insTGT (NPHP3)	ENSP00000419907.1:n.1335-113_1335-112insTGT
ENST00000469232.5:c.1444-113_1444-112insTGT (NPHP3)	ENSP00000418664.1:n.1444-113_1444-112insTGT
ENST00000471702.2:c.1629-113_1629-112insTGT (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-113_1629-112insTGT
ENST00000490993.5:n.1405-113_1405-112insTGT (NPHP3)
NM_153240.4:c.1629-113_1629-112insTGT (NPHP3)	NP_694972.3:n.1629-113_1629-112insTGT
NR_037804.1:n.1733-113_1733-112insTGT (NPHP3-ACAD11)
NM_153240.5:c.1629-113_1629-112insTGT (NPHP3) MANE Select	NP_694972.3:n.1629-113_1629-112insTGT