Canonical Allele Identifier: CA2580077837

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1724261
• ClinVar RCV Id: RCV002306816

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517709_92517710del , CM000669.2:g.92517709_92517710del	GRCh38
NC_000007.13:g.92147023_92147024del , CM000669.1:g.92147023_92147024del	GRCh37
NC_000007.12:g.91984959_91984960del	NCBI36
NG_008341.1:g.15822_15823del
NG_008341.2:g.15822_15823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.805_806del MANE Select	ENSP00000248633.4:p.Glu269AsnfsTer27
ENST00000248633.8:c.805_806del	ENSP00000248633.4:p.Glu269AsnfsTer27
ENST00000428214.5:c.805_806del	ENSP00000394413.1:p.Glu269AsnfsTer27
ENST00000438045.5:c.274-3743_274-3742del	ENSP00000410438.1:n.274-3743_274-3742del
ENST00000484913.5:n.844_845del
NM_000466.2:c.805_806del	NP_000457.1:p.Glu269AsnfsTer27
NM_001282677.1:c.805_806del	NP_001269606.1:p.Glu269AsnfsTer27
NM_001282678.1:c.181_182del	NP_001269607.1:p.Glu61AsnfsTer27
XR_242246.3:n.901_902del
XR_242246.5:n.852_853del
NM_000466.3:c.805_806del MANE Select	NP_000457.1:p.Glu269AsnfsTer27
NM_001282677.2:c.805_806del	NP_001269606.1:p.Glu269AsnfsTer27
NM_001282678.2:c.181_182del	NP_001269607.1:p.Glu61AsnfsTer27