Canonical Allele Identifier: CA2573142463

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1449026
• ClinVar RCV Id: RCV001997341
• dbSNP Id: rs2116165935

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504848del , CM000669.2:g.92504848del	GRCh38
NC_000007.13:g.92134162del , CM000669.1:g.92134162del	GRCh37
NC_000007.12:g.91972098del	NCBI36
NG_008341.1:g.28684del
NG_008341.2:g.28684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1955del MANE Select	ENSP00000248633.4:p.Val652GlyfsTer?
ENST00000248633.8:c.1955del	ENSP00000248633.4:p.Val652GlyfsTer?
ENST00000428214.5:c.1900+1400del	ENSP00000394413.1:n.1900+1400del
ENST00000438045.5:c.989del	ENSP00000410438.1:p.Val330GlyfsTer?
ENST00000484913.5:n.1994del
ENST00000496420.5:n.1631del
NM_000466.2:c.1955del	NP_000457.1:p.Val652GlyfsTer?
NM_001282677.1:c.1900+1400del	NP_001269606.1:n.1900+1400del
NM_001282678.1:c.1331del	NP_001269607.1:p.Val444GlyfsTer?
XM_005250433.3:c.206del	XP_005250490.1:p.Val69GlyfsTer?
XR_242246.3:n.2051del
XM_017012319.2:c.206del	XP_016867808.1:p.Val69GlyfsTer?
XR_001744808.2:n.982del
XR_242246.5:n.2002del
NM_000466.3:c.1955del MANE Select	NP_000457.1:p.Val652GlyfsTer?
NM_001282677.2:c.1900+1400del	NP_001269606.1:n.1900+1400del
NM_001282678.2:c.1331del	NP_001269607.1:p.Val444GlyfsTer?