Canonical Allele Identifier: CA2580077850

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725038
• ClinVar RCV Id: RCV002308097

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518020del , CM000669.2:g.92518020del	GRCh38
NC_000007.13:g.92147334del , CM000669.1:g.92147334del	GRCh37
NC_000007.12:g.91985270del	NCBI36
NG_008341.1:g.15513del
NG_008341.2:g.15513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.496del MANE Select	ENSP00000248633.4:p.Tyr166MetfsTer?
ENST00000248633.8:c.496del	ENSP00000248633.4:p.Tyr166MetfsTer?
ENST00000428214.5:c.496del	ENSP00000394413.1:p.Tyr166MetfsTer?
ENST00000438045.5:c.274-4052del	ENSP00000410438.1:n.274-4052del
ENST00000484913.5:n.535del
NM_000466.2:c.496del	NP_000457.1:p.Tyr166MetfsTer?
NM_001282677.1:c.496del	NP_001269606.1:p.Tyr166MetfsTer?
NM_001282678.1:c.-129del	NP_001269607.1:n.-129del
XR_242246.3:n.592del
XR_242246.5:n.543del
NM_000466.3:c.496del MANE Select	NP_000457.1:p.Tyr166MetfsTer?
NM_001282677.2:c.496del	NP_001269606.1:p.Tyr166MetfsTer?
NM_001282678.2:c.-129del	NP_001269607.1:n.-129del