Canonical Allele Identifier: CA1725926786

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489588_92489589delinsAG , CM000669.2:g.92489588_92489589delinsAG	GRCh38
NC_000007.13:g.92118902_92118903delinsAG , CM000669.1:g.92118902_92118903delinsAG	GRCh37
NC_000007.12:g.91956838_91956839delinsAG	NCBI36
NG_008341.1:g.43943_43944delinsCT
NG_008341.2:g.43943_43944delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+125_3636+126delinsCT (PEX1) MANE Select	ENSP00000248633.4:n.3636+125_3636+126delinsCT
ENST00000248633.8:c.3636+125_3636+126delinsCT (PEX1)	ENSP00000248633.4:n.3636+125_3636+126delinsCT
ENST00000428214.5:c.3465+125_3465+126delinsCT (PEX1)	ENSP00000394413.1:n.3465+125_3465+126delinsCT
ENST00000438045.5:c.2670+125_2670+126delinsCT (PEX1)	ENSP00000410438.1:n.2670+125_2670+126delinsCT
ENST00000469417.1:n.533+125_533+126delinsCT (PEX1)
ENST00000477342.1:n.206_207delinsCT (PEX1)
ENST00000484913.5:n.3675+125_3675+126delinsCT (PEX1)
ENST00000496420.5:n.4686+130_4686+131delinsCT (PEX1)
NM_000466.2:c.3636+125_3636+126delinsCT (PEX1)	NP_000457.1:n.3636+125_3636+126delinsCT
NM_001282677.1:c.3465+125_3465+126delinsCT (PEX1)	NP_001269606.1:n.3465+125_3465+126delinsCT
NM_001282678.1:c.3012+125_3012+126delinsCT (PEX1)	NP_001269607.1:n.3012+125_3012+126delinsCT
XM_005250433.3:c.1887+125_1887+126delinsCT (PEX1)	XP_005250490.1:n.1887+125_1887+126delinsCT
XR_242246.3:n.3727+130_3727+131delinsCT (PEX1)
XR_927494.1:n.1036-1655_1036-1654delinsAG (GATAD1)
XR_927495.1:n.1036-498_1036-497delinsAG (GATAD1)
XR_927496.1:n.1041-1655_1041-1654delinsAG (GATAD1)
XR_927497.1:n.1036-498_1036-497delinsAG (GATAD1)
XR_927498.1:n.1124-1655_1124-1654delinsAG (GATAD1)
XR_927500.1:n.1033-1655_1033-1654delinsAG (GATAD1)
XR_927502.1:n.1033-498_1033-497delinsAG (GATAD1)
XR_927503.1:n.967-1655_967-1654delinsAG (GATAD1)
XM_017012319.2:c.1887+125_1887+126delinsCT (PEX1)	XP_016867808.1:n.1887+125_1887+126delinsCT
XR_001744808.2:n.2658+130_2658+131delinsCT (PEX1)
XR_001744842.2:n.2281-1655_2281-1654delinsAG (GATAD1)
XR_001744843.2:n.2212-1655_2212-1654delinsAG (GATAD1)
XR_002956472.1:n.2281-498_2281-497delinsAG (GATAD1)
XR_002956473.1:n.2369-1655_2369-1654delinsAG (GATAD1)
XR_002956474.1:n.2286-1655_2286-1654delinsAG (GATAD1)
XR_242246.5:n.3678+130_3678+131delinsCT (PEX1)
XR_927494.3:n.1063-1655_1063-1654delinsAG (GATAD1)
XR_927500.3:n.1060-1655_1060-1654delinsAG (GATAD1)
XR_927503.3:n.994-1655_994-1654delinsAG (GATAD1)
NM_000466.3:c.3636+125_3636+126delinsCT (PEX1) MANE Select	NP_000457.1:n.3636+125_3636+126delinsCT
NM_001282677.2:c.3465+125_3465+126delinsCT (PEX1)	NP_001269606.1:n.3465+125_3465+126delinsCT
NM_001282678.2:c.3012+125_3012+126delinsCT (PEX1)	NP_001269607.1:n.3012+125_3012+126delinsCT