Canonical Allele Identifier: CA2695199551

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2677634
• ClinVar RCV Id: RCV003476768

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489345dup , CM000669.2:g.92489345dup	GRCh38
NC_000007.13:g.92118659dup , CM000669.1:g.92118659dup	GRCh37
NC_000007.12:g.91956595dup	NCBI36
NG_008341.1:g.44188dup
NG_008341.2:g.44188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3716dup (PEX1) MANE Select	ENSP00000248633.4:p.His1240SerfsTer7
ENST00000248633.8:c.3716dup (PEX1)	ENSP00000248633.4:p.His1240SerfsTer7
ENST00000428214.5:c.3545dup (PEX1)	ENSP00000394413.1:p.His1183SerfsTer7
ENST00000438045.5:c.2750dup (PEX1)	ENSP00000410438.1:p.His918SerfsTer7
ENST00000477342.1:n.451dup (PEX1)
ENST00000484913.5:n.3755dup (PEX1)
ENST00000496420.5:n.4766dup (PEX1)
NM_000466.2:c.3716dup (PEX1)	NP_000457.1:p.His1240SerfsTer7
NM_001282677.1:c.3545dup (PEX1)	NP_001269606.1:p.His1183SerfsTer7
NM_001282678.1:c.3092dup (PEX1)	NP_001269607.1:p.His1032SerfsTer7
XM_005250433.3:c.1967dup (PEX1)	XP_005250490.1:p.His657SerfsTer7
XR_242246.3:n.3807dup (PEX1)
XR_927494.1:n.1036-1898dup (GATAD1)
XR_927495.1:n.1036-741dup (GATAD1)
XR_927496.1:n.1041-1898dup (GATAD1)
XR_927497.1:n.1036-741dup (GATAD1)
XR_927498.1:n.1124-1898dup (GATAD1)
XR_927500.1:n.1033-1898dup (GATAD1)
XR_927502.1:n.1033-741dup (GATAD1)
XR_927503.1:n.967-1898dup (GATAD1)
XM_017012319.2:c.1967dup (PEX1)	XP_016867808.1:p.His657SerfsTer7
XR_001744808.2:n.2738dup (PEX1)
XR_001744842.2:n.2281-1898dup (GATAD1)
XR_001744843.2:n.2212-1898dup (GATAD1)
XR_002956472.1:n.2281-741dup (GATAD1)
XR_002956473.1:n.2369-1898dup (GATAD1)
XR_002956474.1:n.2286-1898dup (GATAD1)
XR_242246.5:n.3758dup (PEX1)
XR_927494.3:n.1063-1898dup (GATAD1)
XR_927500.3:n.1060-1898dup (GATAD1)
XR_927503.3:n.994-1898dup (GATAD1)
NM_000466.3:c.3716dup (PEX1) MANE Select	NP_000457.1:p.His1240SerfsTer7
NM_001282677.2:c.3545dup (PEX1)	NP_001269606.1:p.His1183SerfsTer7
NM_001282678.2:c.3092dup (PEX1)	NP_001269607.1:p.His1032SerfsTer7