Canonical Allele Identifier: CA2578938007

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504885del , CM000669.2:g.92504885del	GRCh38
NC_000007.13:g.92134199del , CM000669.1:g.92134199del	GRCh37
NC_000007.12:g.91972135del	NCBI36
NG_008341.1:g.28647del
NG_008341.2:g.28647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1918del MANE Select	ENSP00000248633.4:p.Ile640TyrfsTer5
ENST00000248633.8:c.1918del	ENSP00000248633.4:p.Ile640TyrfsTer5
ENST00000428214.5:c.1900+1363del	ENSP00000394413.1:n.1900+1363del
ENST00000438045.5:c.952del	ENSP00000410438.1:p.Ile318TyrfsTer5
ENST00000484913.5:n.1957del
ENST00000496420.5:n.1594del
NM_000466.2:c.1918del	NP_000457.1:p.Ile640TyrfsTer5
NM_001282677.1:c.1900+1363del	NP_001269606.1:n.1900+1363del
NM_001282678.1:c.1294del	NP_001269607.1:p.Ile432TyrfsTer5
XM_005250433.3:c.169del	XP_005250490.1:p.Ile57TyrfsTer5
XR_242246.3:n.2014del
XM_017012319.2:c.169del	XP_016867808.1:p.Ile57TyrfsTer5
XR_001744808.2:n.945del
XR_242246.5:n.1965del
NM_000466.3:c.1918del MANE Select	NP_000457.1:p.Ile640TyrfsTer5
NM_001282677.2:c.1900+1363del	NP_001269606.1:n.1900+1363del
NM_001282678.2:c.1294del	NP_001269607.1:p.Ile432TyrfsTer5