Canonical Allele Identifier: CA1725926304

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791119923

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489146dup , CM000669.2:g.92489146dup	GRCh38
NC_000007.13:g.92118460dup , CM000669.1:g.92118460dup	GRCh37
NC_000007.12:g.91956396dup	NCBI36
NG_008341.1:g.44391dup
NG_008341.2:g.44391dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+152dup (PEX1) MANE Select	ENSP00000248633.4:n.3767+152dup
ENST00000248633.8:c.3767+152dup (PEX1)	ENSP00000248633.4:n.3767+152dup
ENST00000428214.5:c.3596+152dup (PEX1)	ENSP00000394413.1:n.3596+152dup
ENST00000438045.5:c.2801+152dup (PEX1)	ENSP00000410438.1:n.2801+152dup
ENST00000477342.1:n.502+152dup (PEX1)
ENST00000484913.5:n.3806+152dup (PEX1)
ENST00000496420.5:n.4817+152dup (PEX1)
NM_000466.2:c.3767+152dup (PEX1)	NP_000457.1:n.3767+152dup
NM_001282677.1:c.3596+152dup (PEX1)	NP_001269606.1:n.3596+152dup
NM_001282678.1:c.3143+152dup (PEX1)	NP_001269607.1:n.3143+152dup
XM_005250433.3:c.2018+152dup (PEX1)	XP_005250490.1:n.2018+152dup
XR_242246.3:n.3858+152dup (PEX1)
XR_927494.1:n.1036-2097dup (GATAD1)
XR_927495.1:n.1036-940dup (GATAD1)
XR_927496.1:n.1041-2097dup (GATAD1)
XR_927497.1:n.1036-940dup (GATAD1)
XR_927498.1:n.1124-2097dup (GATAD1)
XR_927500.1:n.1033-2097dup (GATAD1)
XR_927502.1:n.1033-940dup (GATAD1)
XR_927503.1:n.967-2097dup (GATAD1)
XM_017012319.2:c.2018+152dup (PEX1)	XP_016867808.1:n.2018+152dup
XR_001744808.2:n.2789+152dup (PEX1)
XR_001744842.2:n.2281-2097dup (GATAD1)
XR_001744843.2:n.2212-2097dup (GATAD1)
XR_002956472.1:n.2281-940dup (GATAD1)
XR_002956473.1:n.2369-2097dup (GATAD1)
XR_002956474.1:n.2286-2097dup (GATAD1)
XR_242246.5:n.3809+152dup (PEX1)
XR_927494.3:n.1063-2097dup (GATAD1)
XR_927500.3:n.1060-2097dup (GATAD1)
XR_927503.3:n.994-2097dup (GATAD1)
NM_000466.3:c.3767+152dup (PEX1) MANE Select	NP_000457.1:n.3767+152dup
NM_001282677.2:c.3596+152dup (PEX1)	NP_001269606.1:n.3596+152dup
NM_001282678.2:c.3143+152dup (PEX1)	NP_001269607.1:n.3143+152dup