Canonical Allele Identifier: CA10605657

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 287046
• ClinVar RCV Id: RCV000328396 ; RCV001004314 ; RCV001214049 ; RCV003475913
• dbSNP Id: rs886043558
• gnomAD v4: 7-92491405-C-CAT
• MyVariant Identifiers: chr7:g.92120719_92120720insAT (hg19) ; chr7:g.92491405_92491406insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491406_92491407dup , CM000669.2:g.92491406_92491407dup	GRCh38
NC_000007.13:g.92120720_92120721dup , CM000669.1:g.92120720_92120721dup	GRCh37
NC_000007.12:g.91958656_91958657dup	NCBI36
NG_008341.1:g.42125_42126dup
NG_008341.2:g.42125_42126dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3303_3304dup (PEX1) MANE Select	ENSP00000248633.4:p.Cys1102TyrfsTer4
ENST00000248633.8:c.3303_3304dup (PEX1)	ENSP00000248633.4:p.Cys1102TyrfsTer4
ENST00000428214.5:c.3132_3133dup (PEX1)	ENSP00000394413.1:p.Cys1045TyrfsTer4
ENST00000438045.5:c.2337_2338dup (PEX1)	ENSP00000410438.1:p.Cys780TyrfsTer4
ENST00000484913.5:n.3342_3343dup (PEX1)
ENST00000496420.5:n.4358_4359dup (PEX1)
NM_000466.2:c.3303_3304dup (PEX1)	NP_000457.1:p.Cys1102TyrfsTer4
NM_001282677.1:c.3132_3133dup (PEX1)	NP_001269606.1:p.Cys1045TyrfsTer4
NM_001282678.1:c.2679_2680dup (PEX1)	NP_001269607.1:p.Cys894TyrfsTer4
XM_005250433.3:c.1554_1555dup (PEX1)	XP_005250490.1:p.Cys519TyrfsTer4
XR_242246.3:n.3399_3400dup (PEX1)
XM_017012319.2:c.1554_1555dup (PEX1)	XP_016867808.1:p.Cys519TyrfsTer4
XR_001744808.2:n.2330_2331dup (PEX1)
XR_001744842.2:n.2444_2445dup (GATAD1)
XR_001744843.2:n.2375_2376dup (GATAD1)
XR_002956472.1:n.2501_2502dup (GATAD1)
XR_002956473.1:n.2532_2533dup (GATAD1)
XR_002956474.1:n.2449_2450dup (GATAD1)
XR_242246.5:n.3350_3351dup (PEX1)
XR_927494.3:n.1226_1227dup (GATAD1)
XR_927500.3:n.1223_1224dup (GATAD1)
XR_927503.3:n.1157_1158dup (GATAD1)
NM_000466.3:c.3303_3304dup (PEX1) MANE Select	NP_000457.1:p.Cys1102TyrfsTer4
NM_001282677.2:c.3132_3133dup (PEX1)	NP_001269606.1:p.Cys1045TyrfsTer4
NM_001282678.2:c.2679_2680dup (PEX1)	NP_001269607.1:p.Cys894TyrfsTer4