Canonical Allele Identifier: CA1725926570

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791140608

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489380_92489383dup , CM000669.2:g.92489380_92489383dup	GRCh38
NC_000007.13:g.92118694_92118697dup , CM000669.1:g.92118694_92118697dup	GRCh37
NC_000007.12:g.91956630_91956633dup	NCBI36
NG_008341.1:g.44150_44153dup
NG_008341.2:g.44150_44153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3678_3681dup (PEX1) MANE Select	ENSP00000248633.4:p.Ala1228ThrfsTer4
ENST00000248633.8:c.3678_3681dup (PEX1)	ENSP00000248633.4:p.Ala1228ThrfsTer4
ENST00000428214.5:c.3507_3510dup (PEX1)	ENSP00000394413.1:p.Ala1171ThrfsTer4
ENST00000438045.5:c.2712_2715dup (PEX1)	ENSP00000410438.1:p.Ala906ThrfsTer4
ENST00000469417.1:n.575_578dup (PEX1)
ENST00000477342.1:n.413_416dup (PEX1)
ENST00000484913.5:n.3717_3720dup (PEX1)
ENST00000496420.5:n.4728_4731dup (PEX1)
NM_000466.2:c.3678_3681dup (PEX1)	NP_000457.1:p.Ala1228ThrfsTer4
NM_001282677.1:c.3507_3510dup (PEX1)	NP_001269606.1:p.Ala1171ThrfsTer4
NM_001282678.1:c.3054_3057dup (PEX1)	NP_001269607.1:p.Ala1020ThrfsTer4
XM_005250433.3:c.1929_1932dup (PEX1)	XP_005250490.1:p.Ala645ThrfsTer4
XR_242246.3:n.3769_3772dup (PEX1)
XR_927494.1:n.1036-1863_1036-1860dup (GATAD1)
XR_927495.1:n.1036-706_1036-703dup (GATAD1)
XR_927496.1:n.1041-1863_1041-1860dup (GATAD1)
XR_927497.1:n.1036-706_1036-703dup (GATAD1)
XR_927498.1:n.1124-1863_1124-1860dup (GATAD1)
XR_927500.1:n.1033-1863_1033-1860dup (GATAD1)
XR_927502.1:n.1033-706_1033-703dup (GATAD1)
XR_927503.1:n.967-1863_967-1860dup (GATAD1)
XM_017012319.2:c.1929_1932dup (PEX1)	XP_016867808.1:p.Ala645ThrfsTer4
XR_001744808.2:n.2700_2703dup (PEX1)
XR_001744842.2:n.2281-1863_2281-1860dup (GATAD1)
XR_001744843.2:n.2212-1863_2212-1860dup (GATAD1)
XR_002956472.1:n.2281-706_2281-703dup (GATAD1)
XR_002956473.1:n.2369-1863_2369-1860dup (GATAD1)
XR_002956474.1:n.2286-1863_2286-1860dup (GATAD1)
XR_242246.5:n.3720_3723dup (PEX1)
XR_927494.3:n.1063-1863_1063-1860dup (GATAD1)
XR_927500.3:n.1060-1863_1060-1860dup (GATAD1)
XR_927503.3:n.994-1863_994-1860dup (GATAD1)
NM_000466.3:c.3678_3681dup (PEX1) MANE Select	NP_000457.1:p.Ala1228ThrfsTer4
NM_001282677.2:c.3507_3510dup (PEX1)	NP_001269606.1:p.Ala1171ThrfsTer4
NM_001282678.2:c.3054_3057dup (PEX1)	NP_001269607.1:p.Ala1020ThrfsTer4