Canonical Allele Identifier: CA2695199569

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677609
• ClinVar RCV Id: RCV003476743

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517689dup , CM000669.2:g.92517689dup	GRCh38
NC_000007.13:g.92147003dup , CM000669.1:g.92147003dup	GRCh37
NC_000007.12:g.91984939dup	NCBI36
NG_008341.1:g.15843dup
NG_008341.2:g.15843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.826dup MANE Select	ENSP00000248633.4:p.Met276AsnfsTer21
ENST00000248633.8:c.826dup	ENSP00000248633.4:p.Met276AsnfsTer21
ENST00000428214.5:c.826dup	ENSP00000394413.1:p.Met276AsnfsTer21
ENST00000438045.5:c.274-3722dup	ENSP00000410438.1:n.274-3722dup
ENST00000484913.5:n.865dup
NM_000466.2:c.826dup	NP_000457.1:p.Met276AsnfsTer21
NM_001282677.1:c.826dup	NP_001269606.1:p.Met276AsnfsTer21
NM_001282678.1:c.202dup	NP_001269607.1:p.Met68AsnfsTer21
XR_242246.3:n.922dup
XR_242246.5:n.873dup
NM_000466.3:c.826dup MANE Select	NP_000457.1:p.Met276AsnfsTer21
NM_001282677.2:c.826dup	NP_001269606.1:p.Met276AsnfsTer21
NM_001282678.2:c.202dup	NP_001269607.1:p.Met68AsnfsTer21