Canonical Allele Identifier: CA274446

Gene: PEX1

Linked Data

• ClinVar Variation Id: 189165
• ClinVar RCV Id: RCV000169592
• dbSNP Id: rs786204743
• gnomAD v4: 7-92511028-CAG-C
• MyVariant Identifiers: chr7:g.92140343_92140344del (hg19) ; chr7:g.92511029_92511030del (hg38)
• PubMed: PMID:21031596

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511032_92511033del , CM000669.2:g.92511032_92511033del	GRCh38
NC_000007.13:g.92140346_92140347del , CM000669.1:g.92140346_92140347del	GRCh37
NC_000007.12:g.91978282_91978283del	NCBI36
NG_008341.1:g.22502_22503del
NG_008341.2:g.22502_22503del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1501_1502del MANE Select	ENSP00000248633.4:p.Leu501GlufsTer12
ENST00000248633.8:c.1501_1502del	ENSP00000248633.4:p.Leu501GlufsTer12
ENST00000422866.1:c.402_403del
ENST00000428214.5:c.1501_1502del	ENSP00000394413.1:p.Leu501GlufsTer12
ENST00000438045.5:c.535_536del	ENSP00000410438.1:p.Leu179GlufsTer12
ENST00000476923.1:n.262_263del
ENST00000484913.5:n.1540_1541del
NM_000466.2:c.1501_1502del	NP_000457.1:p.Leu501GlufsTer12
NM_001282677.1:c.1501_1502del	NP_001269606.1:p.Leu501GlufsTer12
NM_001282678.1:c.877_878del	NP_001269607.1:p.Leu293GlufsTer12
XM_005250433.3:c.-166_-165del	XP_005250490.1:n.-166_-165del
XR_242246.3:n.1597_1598del
XM_017012319.2:c.-166_-165del	XP_016867808.1:n.-166_-165del
XR_001744808.2:n.611_612del
XR_242246.5:n.1548_1549del
NM_000466.3:c.1501_1502del MANE Select	NP_000457.1:p.Leu501GlufsTer12
NM_001282677.2:c.1501_1502del	NP_001269606.1:p.Leu501GlufsTer12
NM_001282678.2:c.877_878del	NP_001269607.1:p.Leu293GlufsTer12