Canonical Allele Identifier: CA2683716777

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489607-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489607_92489608insGG , CM000669.2:g.92489607_92489608insGG	GRCh38
NC_000007.13:g.92118921_92118922insGG , CM000669.1:g.92118921_92118922insGG	GRCh37
NC_000007.12:g.91956857_91956858insGG	NCBI36
NG_008341.1:g.43924_43925insCC
NG_008341.2:g.43924_43925insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+106_3636+107insCC (PEX1) MANE Select	ENSP00000248633.4:n.3636+106_3636+107insC...
ENST00000248633.8:c.3636+106_3636+107insCC (PEX1)	ENSP00000248633.4:n.3636+106_3636+107insC...
ENST00000428214.5:c.3465+106_3465+107insCC (PEX1)	ENSP00000394413.1:n.3465+106_3465+107insC...
ENST00000438045.5:c.2670+106_2670+107insCC (PEX1)	ENSP00000410438.1:n.2670+106_2670+107insC...
ENST00000469417.1:n.533+106_533+107insCC (PEX1)
ENST00000477342.1:n.187_188insCC (PEX1)
ENST00000484913.5:n.3675+106_3675+107insCC (PEX1)
ENST00000496420.5:n.4686+111_4686+112insCC (PEX1)
NM_000466.2:c.3636+106_3636+107insCC (PEX1)	NP_000457.1:n.3636+106_3636+107insCC
NM_001282677.1:c.3465+106_3465+107insCC (PEX1)	NP_001269606.1:n.3465+106_3465+107insCC
NM_001282678.1:c.3012+106_3012+107insCC (PEX1)	NP_001269607.1:n.3012+106_3012+107insCC
XM_005250433.3:c.1887+106_1887+107insCC (PEX1)	XP_005250490.1:n.1887+106_1887+107insCC
XR_242246.3:n.3727+111_3727+112insCC (PEX1)
XR_927494.1:n.1036-1636_1036-1635insGG (GATAD1)
XR_927495.1:n.1036-479_1036-478insGG (GATAD1)
XR_927496.1:n.1041-1636_1041-1635insGG (GATAD1)
XR_927497.1:n.1036-479_1036-478insGG (GATAD1)
XR_927498.1:n.1124-1636_1124-1635insGG (GATAD1)
XR_927500.1:n.1033-1636_1033-1635insGG (GATAD1)
XR_927502.1:n.1033-479_1033-478insGG (GATAD1)
XR_927503.1:n.967-1636_967-1635insGG (GATAD1)
XM_017012319.2:c.1887+106_1887+107insCC (PEX1)	XP_016867808.1:n.1887+106_1887+107insCC
XR_001744808.2:n.2658+111_2658+112insCC (PEX1)
XR_001744842.2:n.2281-1636_2281-1635insGG (GATAD1)
XR_001744843.2:n.2212-1636_2212-1635insGG (GATAD1)
XR_002956472.1:n.2281-479_2281-478insGG (GATAD1)
XR_002956473.1:n.2369-1636_2369-1635insGG (GATAD1)
XR_002956474.1:n.2286-1636_2286-1635insGG (GATAD1)
XR_242246.5:n.3678+111_3678+112insCC (PEX1)
XR_927494.3:n.1063-1636_1063-1635insGG (GATAD1)
XR_927500.3:n.1060-1636_1060-1635insGG (GATAD1)
XR_927503.3:n.994-1636_994-1635insGG (GATAD1)
NM_000466.3:c.3636+106_3636+107insCC (PEX1) MANE Select	NP_000457.1:n.3636+106_3636+107insCC
NM_001282677.2:c.3465+106_3465+107insCC (PEX1)	NP_001269606.1:n.3465+106_3465+107insCC
NM_001282678.2:c.3012+106_3012+107insCC (PEX1)	NP_001269607.1:n.3012+106_3012+107insCC