Canonical Allele Identifier: CA2695199572

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677607
• ClinVar RCV Id: RCV003476741

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517860del , CM000669.2:g.92517860del	GRCh38
NC_000007.13:g.92147174del , CM000669.1:g.92147174del	GRCh37
NC_000007.12:g.91985110del	NCBI36
NG_008341.1:g.15672del
NG_008341.2:g.15672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.655del MANE Select	ENSP00000248633.4:p.Gln219SerfsTer24
ENST00000248633.8:c.655del	ENSP00000248633.4:p.Gln219SerfsTer24
ENST00000428214.5:c.655del	ENSP00000394413.1:p.Gln219SerfsTer24
ENST00000438045.5:c.274-3893del	ENSP00000410438.1:n.274-3893del
ENST00000484913.5:n.694del
NM_000466.2:c.655del	NP_000457.1:p.Gln219SerfsTer24
NM_001282677.1:c.655del	NP_001269606.1:p.Gln219SerfsTer24
NM_001282678.1:c.31del	NP_001269607.1:p.Gln11SerfsTer24
XR_242246.3:n.751del
XR_242246.5:n.702del
NM_000466.3:c.655del MANE Select	NP_000457.1:p.Gln219SerfsTer24
NM_001282677.2:c.655del	NP_001269606.1:p.Gln219SerfsTer24
NM_001282678.2:c.31del	NP_001269607.1:p.Gln11SerfsTer24