Canonical Allele Identifier: CA2580077513

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1723957
• ClinVar RCV Id: RCV002306512
• gnomAD v4: 7-92494390-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494393dup , CM000669.2:g.92494393dup	GRCh38
NC_000007.13:g.92123707dup , CM000669.1:g.92123707dup	GRCh37
NC_000007.12:g.91961643dup	NCBI36
NG_008341.1:g.39141dup
NG_008341.2:g.39141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2932dup (PEX1) MANE Select	ENSP00000248633.4:p.Tyr978LeufsTer7
ENST00000248633.8:c.2932dup (PEX1)	ENSP00000248633.4:p.Tyr978LeufsTer7
ENST00000428214.5:c.2761dup (PEX1)	ENSP00000394413.1:p.Tyr921LeufsTer7
ENST00000438045.5:c.1966dup (PEX1)	ENSP00000410438.1:p.Tyr656LeufsTer7
ENST00000484913.5:n.2971dup (PEX1)
ENST00000496420.5:n.2824dup (PEX1)
NM_000466.2:c.2932dup (PEX1)	NP_000457.1:p.Tyr978LeufsTer7
NM_001282677.1:c.2761dup (PEX1)	NP_001269606.1:p.Tyr921LeufsTer7
NM_001282678.1:c.2308dup (PEX1)	NP_001269607.1:p.Tyr770LeufsTer7
XM_005250433.3:c.1183dup (PEX1)	XP_005250490.1:p.Tyr395LeufsTer7
XR_242246.3:n.3028dup (PEX1)
XM_017012319.2:c.1183dup (PEX1)	XP_016867808.1:p.Tyr395LeufsTer7
XR_001744808.2:n.1959dup (PEX1)
XR_001744843.2:n.5362dup (GATAD1)
XR_242246.5:n.2979dup (PEX1)
XR_927494.3:n.4213dup (GATAD1)
XR_927503.3:n.4144dup (GATAD1)
NM_000466.3:c.2932dup (PEX1) MANE Select	NP_000457.1:p.Tyr978LeufsTer7
NM_001282677.2:c.2761dup (PEX1)	NP_001269606.1:p.Tyr921LeufsTer7
NM_001282678.2:c.2308dup (PEX1)	NP_001269607.1:p.Tyr770LeufsTer7