Canonical Allele Identifier: CA2580077817

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1947058
• ClinVar RCV Id: RCV002685400

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517334_92517346del , CM000669.2:g.92517334_92517346del	GRCh38
NC_000007.13:g.92146648_92146660del , CM000669.1:g.92146648_92146660del	GRCh37
NC_000007.12:g.91984584_91984596del	NCBI36
NG_008341.1:g.16188_16200del
NG_008341.2:g.16188_16200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1171_1183del MANE Select	ENSP00000248633.4:p.Leu391ThrfsTer10
ENST00000248633.8:c.1171_1183del	ENSP00000248633.4:p.Leu391ThrfsTer10
ENST00000422866.1:c.72_84del
ENST00000428214.5:c.1171_1183del	ENSP00000394413.1:p.Leu391ThrfsTer10
ENST00000438045.5:c.274-3377_274-3365del	ENSP00000410438.1:n.274-3377_274-3365del
ENST00000484913.5:n.1210_1222del
NM_000466.2:c.1171_1183del	NP_000457.1:p.Leu391ThrfsTer10
NM_001282677.1:c.1171_1183del	NP_001269606.1:p.Leu391ThrfsTer10
NM_001282678.1:c.547_559del	NP_001269607.1:p.Leu183ThrfsTer10
XR_242246.3:n.1267_1279del
XM_017012319.2:c.-496_-484del	XP_016867808.1:n.-496_-484del
XR_001744808.2:n.281_293del
XR_242246.5:n.1218_1230del
NM_000466.3:c.1171_1183del MANE Select	NP_000457.1:p.Leu391ThrfsTer10
NM_001282677.2:c.1171_1183del	NP_001269606.1:p.Leu391ThrfsTer10
NM_001282678.2:c.547_559del	NP_001269607.1:p.Leu183ThrfsTer10