Canonical Allele Identifier: CA2683717061

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2677623
• ClinVar RCV Id: RCV003476757 ; RCV003759878
• gnomAD v4: 7-92489819-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489821dup , CM000669.2:g.92489821dup	GRCh38
NC_000007.13:g.92119135dup , CM000669.1:g.92119135dup	GRCh37
NC_000007.12:g.91957071dup	NCBI36
NG_008341.1:g.43712dup
NG_008341.2:g.43712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3530dup (PEX1) MANE Select	ENSP00000248633.4:p.Leu1177PhefsTer?
ENST00000248633.8:c.3530dup (PEX1)	ENSP00000248633.4:p.Leu1177PhefsTer?
ENST00000428214.5:c.3359dup (PEX1)	ENSP00000394413.1:p.Leu1120PhefsTer?
ENST00000438045.5:c.2564dup (PEX1)	ENSP00000410438.1:p.Leu855PhefsTer?
ENST00000469417.1:n.427dup (PEX1)
ENST00000484913.5:n.3569dup (PEX1)
ENST00000496420.5:n.4585dup (PEX1)
NM_000466.2:c.3530dup (PEX1)	NP_000457.1:p.Leu1177PhefsTer?
NM_001282677.1:c.3359dup (PEX1)	NP_001269606.1:p.Leu1120PhefsTer?
NM_001282678.1:c.2906dup (PEX1)	NP_001269607.1:p.Leu969PhefsTer?
XM_005250433.3:c.1781dup (PEX1)	XP_005250490.1:p.Leu594PhefsTer?
XR_242246.3:n.3626dup (PEX1)
XR_927494.1:n.1036-1422dup (GATAD1)
XR_927495.1:n.1036-265dup (GATAD1)
XR_927496.1:n.1041-1422dup (GATAD1)
XR_927497.1:n.1036-265dup (GATAD1)
XR_927498.1:n.1124-1422dup (GATAD1)
XR_927500.1:n.1033-1422dup (GATAD1)
XR_927502.1:n.1033-265dup (GATAD1)
XR_927503.1:n.967-1422dup (GATAD1)
XM_017012319.2:c.1781dup (PEX1)	XP_016867808.1:p.Leu594PhefsTer?
XR_001744808.2:n.2557dup (PEX1)
XR_001744842.2:n.2281-1422dup (GATAD1)
XR_001744843.2:n.2212-1422dup (GATAD1)
XR_002956472.1:n.2281-265dup (GATAD1)
XR_002956473.1:n.2369-1422dup (GATAD1)
XR_002956474.1:n.2286-1422dup (GATAD1)
XR_242246.5:n.3577dup (PEX1)
XR_927494.3:n.1063-1422dup (GATAD1)
XR_927500.3:n.1060-1422dup (GATAD1)
XR_927503.3:n.994-1422dup (GATAD1)
NM_000466.3:c.3530dup (PEX1) MANE Select	NP_000457.1:p.Leu1177PhefsTer?
NM_001282677.2:c.3359dup (PEX1)	NP_001269606.1:p.Leu1120PhefsTer?
NM_001282678.2:c.2906dup (PEX1)	NP_001269607.1:p.Leu969PhefsTer?