Canonical Allele Identifier: CA2578938006

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504868del , CM000669.2:g.92504868del	GRCh38
NC_000007.13:g.92134182del , CM000669.1:g.92134182del	GRCh37
NC_000007.12:g.91972118del	NCBI36
NG_008341.1:g.28665del
NG_008341.2:g.28665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1936del MANE Select	ENSP00000248633.4:p.Val646TrpfsTer?
ENST00000248633.8:c.1936del	ENSP00000248633.4:p.Val646TrpfsTer?
ENST00000428214.5:c.1900+1381del	ENSP00000394413.1:n.1900+1381del
ENST00000438045.5:c.970del	ENSP00000410438.1:p.Val324TrpfsTer?
ENST00000484913.5:n.1975del
ENST00000496420.5:n.1612del
NM_000466.2:c.1936del	NP_000457.1:p.Val646TrpfsTer?
NM_001282677.1:c.1900+1381del	NP_001269606.1:n.1900+1381del
NM_001282678.1:c.1312del	NP_001269607.1:p.Val438TrpfsTer?
XM_005250433.3:c.187del	XP_005250490.1:p.Val63TrpfsTer?
XR_242246.3:n.2032del
XM_017012319.2:c.187del	XP_016867808.1:p.Val63TrpfsTer?
XR_001744808.2:n.963del
XR_242246.5:n.1983del
NM_000466.3:c.1936del MANE Select	NP_000457.1:p.Val646TrpfsTer?
NM_001282677.2:c.1900+1381del	NP_001269606.1:n.1900+1381del
NM_001282678.2:c.1312del	NP_001269607.1:p.Val438TrpfsTer?