Canonical Allele Identifier: CA2776947642

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522234del , CM000669.2:g.92522234del	GRCh38
NC_000007.13:g.92151548del , CM000669.1:g.92151548del	GRCh37
NC_000007.12:g.91989484del	NCBI36
NG_008341.1:g.11298del
NG_008341.2:g.11298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.141del MANE Select	ENSP00000248633.4:p.Ile47MetfsTer12
ENST00000248633.8:c.141del	ENSP00000248633.4:p.Ile47MetfsTer12
ENST00000428214.5:c.141del	ENSP00000394413.1:p.Ile47MetfsTer12
ENST00000438045.5:c.141del	ENSP00000410438.1:p.Ile47MetfsTer12
ENST00000484913.5:n.145del
NM_000466.2:c.141del	NP_000457.1:p.Ile47MetfsTer12
NM_001282677.1:c.141del	NP_001269606.1:p.Ile47MetfsTer12
NM_001282678.1:c.-519del	NP_001269607.1:n.-519del
XR_242246.3:n.237del
XR_242246.5:n.188del
NM_000466.3:c.141del MANE Select	NP_000457.1:p.Ile47MetfsTer12
NM_001282677.2:c.141del	NP_001269606.1:p.Ile47MetfsTer12
NM_001282678.2:c.-519del	NP_001269607.1:n.-519del