Canonical Allele Identifier: CA2697557405

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2698444
• ClinVar RCV Id: RCV003594838

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517865dup , CM000669.2:g.92517865dup	GRCh38
NC_000007.13:g.92147179dup , CM000669.1:g.92147179dup	GRCh37
NC_000007.12:g.91985115dup	NCBI36
NG_008341.1:g.15668dup
NG_008341.2:g.15668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.651dup MANE Select	ENSP00000248633.4:p.Leu218ThrfsTer10
ENST00000248633.8:c.651dup	ENSP00000248633.4:p.Leu218ThrfsTer10
ENST00000428214.5:c.651dup	ENSP00000394413.1:p.Leu218ThrfsTer10
ENST00000438045.5:c.274-3897dup	ENSP00000410438.1:n.274-3897dup
ENST00000484913.5:n.690dup
NM_000466.2:c.651dup	NP_000457.1:p.Leu218ThrfsTer10
NM_001282677.1:c.651dup	NP_001269606.1:p.Leu218ThrfsTer10
NM_001282678.1:c.27dup	NP_001269607.1:p.Leu10ThrfsTer10
XR_242246.3:n.747dup
XR_242246.5:n.698dup
NM_000466.3:c.651dup MANE Select	NP_000457.1:p.Leu218ThrfsTer10
NM_001282677.2:c.651dup	NP_001269606.1:p.Leu218ThrfsTer10
NM_001282678.2:c.27dup	NP_001269607.1:p.Leu10ThrfsTer10