Canonical Allele Identifier: CA2695199556

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677613
• ClinVar RCV Id: RCV003476747

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503188del , CM000669.2:g.92503188del	GRCh38
NC_000007.13:g.92132502del , CM000669.1:g.92132502del	GRCh37
NC_000007.12:g.91970438del	NCBI36
NG_008341.1:g.30344del
NG_008341.2:g.30344del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2079del MANE Select	ENSP00000248633.4:p.Asn693LysfsTer3
ENST00000248633.8:c.2079del	ENSP00000248633.4:p.Asn693LysfsTer3
ENST00000428214.5:c.1908del	ENSP00000394413.1:p.Asn636LysfsTer3
ENST00000438045.5:c.1113del	ENSP00000410438.1:p.Asn371LysfsTer3
ENST00000484913.5:n.2118del
ENST00000496420.5:n.1755del
NM_000466.2:c.2079del	NP_000457.1:p.Asn693LysfsTer3
NM_001282677.1:c.1908del	NP_001269606.1:p.Asn636LysfsTer3
NM_001282678.1:c.1455del	NP_001269607.1:p.Asn485LysfsTer3
XM_005250433.3:c.330del	XP_005250490.1:p.Asn110LysfsTer3
XR_242246.3:n.2175del
XM_017012319.2:c.330del	XP_016867808.1:p.Asn110LysfsTer3
XR_001744808.2:n.1106del
XR_242246.5:n.2126del
NM_000466.3:c.2079del MANE Select	NP_000457.1:p.Asn693LysfsTer3
NM_001282677.2:c.1908del	NP_001269606.1:p.Asn636LysfsTer3
NM_001282678.2:c.1455del	NP_001269607.1:p.Asn485LysfsTer3