Canonical Allele Identifier: CA2740865225

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489691_92489692insC , CM000669.2:g.92489691_92489692insC	GRCh38
NC_000007.13:g.92119005_92119006insC , CM000669.1:g.92119005_92119006insC	GRCh37
NC_000007.12:g.91956941_91956942insC	NCBI36
NG_008341.1:g.43840_43841insG
NG_008341.2:g.43840_43841insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3636+22_3636+23insG (PEX1) MANE Select	ENSP00000248633.4:n.3636+22_3636+23insG
ENST00000248633.8:c.3636+22_3636+23insG (PEX1)	ENSP00000248633.4:n.3636+22_3636+23insG
ENST00000428214.5:c.3465+22_3465+23insG (PEX1)	ENSP00000394413.1:n.3465+22_3465+23insG
ENST00000438045.5:c.2670+22_2670+23insG (PEX1)	ENSP00000410438.1:n.2670+22_2670+23insG
ENST00000469417.1:n.533+22_533+23insG (PEX1)
ENST00000477342.1:n.103_104insG (PEX1)
ENST00000484913.5:n.3675+22_3675+23insG (PEX1)
ENST00000496420.5:n.4686+27_4686+28insG (PEX1)
NM_000466.2:c.3636+22_3636+23insG (PEX1)	NP_000457.1:n.3636+22_3636+23insG
NM_001282677.1:c.3465+22_3465+23insG (PEX1)	NP_001269606.1:n.3465+22_3465+23insG
NM_001282678.1:c.3012+22_3012+23insG (PEX1)	NP_001269607.1:n.3012+22_3012+23insG
XM_005250433.3:c.1887+22_1887+23insG (PEX1)	XP_005250490.1:n.1887+22_1887+23insG
XR_242246.3:n.3727+27_3727+28insG (PEX1)
XR_927494.1:n.1036-1552_1036-1551insC (GATAD1)
XR_927495.1:n.1036-395_1036-394insC (GATAD1)
XR_927496.1:n.1041-1552_1041-1551insC (GATAD1)
XR_927497.1:n.1036-395_1036-394insC (GATAD1)
XR_927498.1:n.1124-1552_1124-1551insC (GATAD1)
XR_927500.1:n.1033-1552_1033-1551insC (GATAD1)
XR_927502.1:n.1033-395_1033-394insC (GATAD1)
XR_927503.1:n.967-1552_967-1551insC (GATAD1)
XM_017012319.2:c.1887+22_1887+23insG (PEX1)	XP_016867808.1:n.1887+22_1887+23insG
XR_001744808.2:n.2658+27_2658+28insG (PEX1)
XR_001744842.2:n.2281-1552_2281-1551insC (GATAD1)
XR_001744843.2:n.2212-1552_2212-1551insC (GATAD1)
XR_002956472.1:n.2281-395_2281-394insC (GATAD1)
XR_002956473.1:n.2369-1552_2369-1551insC (GATAD1)
XR_002956474.1:n.2286-1552_2286-1551insC (GATAD1)
XR_242246.5:n.3678+27_3678+28insG (PEX1)
XR_927494.3:n.1063-1552_1063-1551insC (GATAD1)
XR_927500.3:n.1060-1552_1060-1551insC (GATAD1)
XR_927503.3:n.994-1552_994-1551insC (GATAD1)
NM_000466.3:c.3636+22_3636+23insG (PEX1) MANE Select	NP_000457.1:n.3636+22_3636+23insG
NM_001282677.2:c.3465+22_3465+23insG (PEX1)	NP_001269606.1:n.3465+22_3465+23insG
NM_001282678.2:c.3012+22_3012+23insG (PEX1)	NP_001269607.1:n.3012+22_3012+23insG