Canonical Allele Identifier: CA2683720459

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677644
• ClinVar RCV Id: RCV003476778
• gnomAD v4: 7-92517772-A-ATAGTCCATAAACTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517775_92517790dup , CM000669.2:g.92517775_92517790dup	GRCh38
NC_000007.13:g.92147089_92147104dup , CM000669.1:g.92147089_92147104dup	GRCh37
NC_000007.12:g.91985025_91985040dup	NCBI36
NG_008341.1:g.15744_15759dup
NG_008341.2:g.15744_15759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.727_742dup MANE Select	ENSP00000248633.4:p.Met248SerfsTer16
ENST00000248633.8:c.727_742dup	ENSP00000248633.4:p.Met248SerfsTer16
ENST00000428214.5:c.727_742dup	ENSP00000394413.1:p.Met248SerfsTer16
ENST00000438045.5:c.274-3821_274-3806dup	ENSP00000410438.1:n.274-3821_274-3806dup
ENST00000484913.5:n.766_781dup
NM_000466.2:c.727_742dup	NP_000457.1:p.Met248SerfsTer16
NM_001282677.1:c.727_742dup	NP_001269606.1:p.Met248SerfsTer16
NM_001282678.1:c.103_118dup	NP_001269607.1:p.Met40SerfsTer16
XR_242246.3:n.823_838dup
XR_242246.5:n.774_789dup
NM_000466.3:c.727_742dup MANE Select	NP_000457.1:p.Met248SerfsTer16
NM_001282677.2:c.727_742dup	NP_001269606.1:p.Met248SerfsTer16
NM_001282678.2:c.103_118dup	NP_001269607.1:p.Met40SerfsTer16