Canonical Allele Identifier: CA2776945436

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489584_92489585insAG , CM000669.2:g.92489584_92489585insAG	GRCh38
NC_000007.13:g.92118898_92118899insAG , CM000669.1:g.92118898_92118899insAG	GRCh37
NC_000007.12:g.91956834_91956835insAG	NCBI36
NG_008341.1:g.43947_43948insCT
NG_008341.2:g.43947_43948insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3636+129_3636+130insCT (PEX1) MANE Select	ENSP00000248633.4:n.3636+129_3636+130insCT
ENST00000248633.8:c.3636+129_3636+130insCT (PEX1)	ENSP00000248633.4:n.3636+129_3636+130insCT
ENST00000428214.5:c.3465+129_3465+130insCT (PEX1)	ENSP00000394413.1:n.3465+129_3465+130insCT
ENST00000438045.5:c.2670+129_2670+130insCT (PEX1)	ENSP00000410438.1:n.2670+129_2670+130insCT
ENST00000469417.1:n.533+129_533+130insCT (PEX1)
ENST00000477342.1:n.210_211insCT (PEX1)
ENST00000484913.5:n.3675+129_3675+130insCT (PEX1)
ENST00000496420.5:n.4686+134_4686+135insCT (PEX1)
NM_000466.2:c.3636+129_3636+130insCT (PEX1)	NP_000457.1:n.3636+129_3636+130insCT
NM_001282677.1:c.3465+129_3465+130insCT (PEX1)	NP_001269606.1:n.3465+129_3465+130insCT
NM_001282678.1:c.3012+129_3012+130insCT (PEX1)	NP_001269607.1:n.3012+129_3012+130insCT
XM_005250433.3:c.1887+129_1887+130insCT (PEX1)	XP_005250490.1:n.1887+129_1887+130insCT
XR_242246.3:n.3727+134_3727+135insCT (PEX1)
XR_927494.1:n.1036-1659_1036-1658insAG (GATAD1)
XR_927495.1:n.1036-502_1036-501insAG (GATAD1)
XR_927496.1:n.1041-1659_1041-1658insAG (GATAD1)
XR_927497.1:n.1036-502_1036-501insAG (GATAD1)
XR_927498.1:n.1124-1659_1124-1658insAG (GATAD1)
XR_927500.1:n.1033-1659_1033-1658insAG (GATAD1)
XR_927502.1:n.1033-502_1033-501insAG (GATAD1)
XR_927503.1:n.967-1659_967-1658insAG (GATAD1)
XM_017012319.2:c.1887+129_1887+130insCT (PEX1)	XP_016867808.1:n.1887+129_1887+130insCT
XR_001744808.2:n.2658+134_2658+135insCT (PEX1)
XR_001744842.2:n.2281-1659_2281-1658insAG (GATAD1)
XR_001744843.2:n.2212-1659_2212-1658insAG (GATAD1)
XR_002956472.1:n.2281-502_2281-501insAG (GATAD1)
XR_002956473.1:n.2369-1659_2369-1658insAG (GATAD1)
XR_002956474.1:n.2286-1659_2286-1658insAG (GATAD1)
XR_242246.5:n.3678+134_3678+135insCT (PEX1)
XR_927494.3:n.1063-1659_1063-1658insAG (GATAD1)
XR_927500.3:n.1060-1659_1060-1658insAG (GATAD1)
XR_927503.3:n.994-1659_994-1658insAG (GATAD1)
NM_000466.3:c.3636+129_3636+130insCT (PEX1) MANE Select	NP_000457.1:n.3636+129_3636+130insCT
NM_001282677.2:c.3465+129_3465+130insCT (PEX1)	NP_001269606.1:n.3465+129_3465+130insCT
NM_001282678.2:c.3012+129_3012+130insCT (PEX1)	NP_001269607.1:n.3012+129_3012+130insCT