Canonical Allele Identifier: CA1725927020

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791177707
• gnomAD v3: 7-92489772-CT-C
• gnomAD v4: 7-92489772-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489775del , CM000669.2:g.92489775del	GRCh38
NC_000007.13:g.92119089del , CM000669.1:g.92119089del	GRCh37
NC_000007.12:g.91957025del	NCBI36
NG_008341.1:g.43759del
NG_008341.2:g.43759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3577del (PEX1) MANE Select	ENSP00000248633.4:p.Arg1193GlufsTer4
ENST00000248633.8:c.3577del (PEX1)	ENSP00000248633.4:p.Arg1193GlufsTer4
ENST00000428214.5:c.3406del (PEX1)	ENSP00000394413.1:p.Arg1136GlufsTer4
ENST00000438045.5:c.2611del (PEX1)	ENSP00000410438.1:p.Arg871GlufsTer4
ENST00000469417.1:n.474del (PEX1)
ENST00000477342.1:n.22del (PEX1)
ENST00000484913.5:n.3616del (PEX1)
ENST00000496420.5:n.4632del (PEX1)
NM_000466.2:c.3577del (PEX1)	NP_000457.1:p.Arg1193GlufsTer4
NM_001282677.1:c.3406del (PEX1)	NP_001269606.1:p.Arg1136GlufsTer4
NM_001282678.1:c.2953del (PEX1)	NP_001269607.1:p.Arg985GlufsTer4
XM_005250433.3:c.1828del (PEX1)	XP_005250490.1:p.Arg610GlufsTer4
XR_242246.3:n.3673del (PEX1)
XR_927494.1:n.1036-1468del (GATAD1)
XR_927495.1:n.1036-311del (GATAD1)
XR_927496.1:n.1041-1468del (GATAD1)
XR_927497.1:n.1036-311del (GATAD1)
XR_927498.1:n.1124-1468del (GATAD1)
XR_927500.1:n.1033-1468del (GATAD1)
XR_927502.1:n.1033-311del (GATAD1)
XR_927503.1:n.967-1468del (GATAD1)
XM_017012319.2:c.1828del (PEX1)	XP_016867808.1:p.Arg610GlufsTer4
XR_001744808.2:n.2604del (PEX1)
XR_001744842.2:n.2281-1468del (GATAD1)
XR_001744843.2:n.2212-1468del (GATAD1)
XR_002956472.1:n.2281-311del (GATAD1)
XR_002956473.1:n.2369-1468del (GATAD1)
XR_002956474.1:n.2286-1468del (GATAD1)
XR_242246.5:n.3624del (PEX1)
XR_927494.3:n.1063-1468del (GATAD1)
XR_927500.3:n.1060-1468del (GATAD1)
XR_927503.3:n.994-1468del (GATAD1)
NM_000466.3:c.3577del (PEX1) MANE Select	NP_000457.1:p.Arg1193GlufsTer4
NM_001282677.2:c.3406del (PEX1)	NP_001269606.1:p.Arg1136GlufsTer4
NM_001282678.2:c.2953del (PEX1)	NP_001269607.1:p.Arg985GlufsTer4