Canonical Allele Identifier: CA2739265480

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2842894
• ClinVar RCV Id: RCV003758472

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503092_92503093del , CM000669.2:g.92503092_92503093del	GRCh38
NC_000007.13:g.92132406_92132407del , CM000669.1:g.92132406_92132407del	GRCh37
NC_000007.12:g.91970342_91970343del	NCBI36
NG_008341.1:g.30440_30441del
NG_008341.2:g.30440_30441del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2175_2176del MANE Select	ENSP00000248633.4:p.Gln726ArgfsTer15
ENST00000248633.8:c.2175_2176del	ENSP00000248633.4:p.Gln726ArgfsTer15
ENST00000428214.5:c.2004_2005del	ENSP00000394413.1:p.Gln669ArgfsTer15
ENST00000438045.5:c.1209_1210del	ENSP00000410438.1:p.Gln404ArgfsTer15
ENST00000484913.5:n.2214_2215del
ENST00000496420.5:n.1851_1852del
NM_000466.2:c.2175_2176del	NP_000457.1:p.Gln726ArgfsTer15
NM_001282677.1:c.2004_2005del	NP_001269606.1:p.Gln669ArgfsTer15
NM_001282678.1:c.1551_1552del	NP_001269607.1:p.Gln518ArgfsTer15
XM_005250433.3:c.426_427del	XP_005250490.1:p.Gln143ArgfsTer15
XR_242246.3:n.2271_2272del
XM_017012319.2:c.426_427del	XP_016867808.1:p.Gln143ArgfsTer15
XR_001744808.2:n.1202_1203del
XR_242246.5:n.2222_2223del
NM_000466.3:c.2175_2176del MANE Select	NP_000457.1:p.Gln726ArgfsTer15
NM_001282677.2:c.2004_2005del	NP_001269606.1:p.Gln669ArgfsTer15
NM_001282678.2:c.1551_1552del	NP_001269607.1:p.Gln518ArgfsTer15