Canonical Allele Identifier: CA2683716881

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489715-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489717_92489718dup , CM000669.2:g.92489717_92489718dup	GRCh38
NC_000007.13:g.92119031_92119032dup , CM000669.1:g.92119031_92119032dup	GRCh37
NC_000007.12:g.91956967_91956968dup	NCBI36
NG_008341.1:g.43815_43816dup
NG_008341.2:g.43815_43816dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3633_3634dup (PEX1) MANE Select	ENSP00000248633.4:p.Gly1212ValfsTer7
ENST00000248633.8:c.3633_3634dup (PEX1)	ENSP00000248633.4:p.Gly1212ValfsTer7
ENST00000428214.5:c.3462_3463dup (PEX1)	ENSP00000394413.1:p.Gly1155ValfsTer7
ENST00000438045.5:c.2667_2668dup (PEX1)	ENSP00000410438.1:p.Gly890ValfsTer7
ENST00000469417.1:n.530_531dup (PEX1)
ENST00000477342.1:n.78_79dup (PEX1)
ENST00000484913.5:n.3672_3673dup (PEX1)
ENST00000496420.5:n.4686+2_4686+3dup (PEX1)
NM_000466.2:c.3633_3634dup (PEX1)	NP_000457.1:p.Gly1212ValfsTer7
NM_001282677.1:c.3462_3463dup (PEX1)	NP_001269606.1:p.Gly1155ValfsTer7
NM_001282678.1:c.3009_3010dup (PEX1)	NP_001269607.1:p.Gly1004ValfsTer7
XM_005250433.3:c.1884_1885dup (PEX1)	XP_005250490.1:p.Gly629ValfsTer7
XR_242246.3:n.3727+2_3727+3dup (PEX1)
XR_927494.1:n.1036-1526_1036-1525dup (GATAD1)
XR_927495.1:n.1036-369_1036-368dup (GATAD1)
XR_927496.1:n.1041-1526_1041-1525dup (GATAD1)
XR_927497.1:n.1036-369_1036-368dup (GATAD1)
XR_927498.1:n.1124-1526_1124-1525dup (GATAD1)
XR_927500.1:n.1033-1526_1033-1525dup (GATAD1)
XR_927502.1:n.1033-369_1033-368dup (GATAD1)
XR_927503.1:n.967-1526_967-1525dup (GATAD1)
XM_017012319.2:c.1884_1885dup (PEX1)	XP_016867808.1:p.Gly629ValfsTer7
XR_001744808.2:n.2658+2_2658+3dup (PEX1)
XR_001744842.2:n.2281-1526_2281-1525dup (GATAD1)
XR_001744843.2:n.2212-1526_2212-1525dup (GATAD1)
XR_002956472.1:n.2281-369_2281-368dup (GATAD1)
XR_002956473.1:n.2369-1526_2369-1525dup (GATAD1)
XR_002956474.1:n.2286-1526_2286-1525dup (GATAD1)
XR_242246.5:n.3678+2_3678+3dup (PEX1)
XR_927494.3:n.1063-1526_1063-1525dup (GATAD1)
XR_927500.3:n.1060-1526_1060-1525dup (GATAD1)
XR_927503.3:n.994-1526_994-1525dup (GATAD1)
NM_000466.3:c.3633_3634dup (PEX1) MANE Select	NP_000457.1:p.Gly1212ValfsTer7
NM_001282677.2:c.3462_3463dup (PEX1)	NP_001269606.1:p.Gly1155ValfsTer7
NM_001282678.2:c.3009_3010dup (PEX1)	NP_001269607.1:p.Gly1004ValfsTer7