Canonical Allele Identifier: CA2695207995

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517322del , CM000669.2:g.92517322del	GRCh38
NC_000007.13:g.92146636del , CM000669.1:g.92146636del	GRCh37
NC_000007.12:g.91984572del	NCBI36
NG_008341.1:g.16210del
NG_008341.2:g.16210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1193del MANE Select	ENSP00000248633.4:p.Ile398ThrfsTer7
ENST00000248633.8:c.1193del	ENSP00000248633.4:p.Ile398ThrfsTer7
ENST00000422866.1:c.94del
ENST00000428214.5:c.1193del	ENSP00000394413.1:p.Ile398ThrfsTer7
ENST00000438045.5:c.274-3355del	ENSP00000410438.1:n.274-3355del
ENST00000484913.5:n.1232del
NM_000466.2:c.1193del	NP_000457.1:p.Ile398ThrfsTer7
NM_001282677.1:c.1193del	NP_001269606.1:p.Ile398ThrfsTer7
NM_001282678.1:c.569del	NP_001269607.1:p.Ile190ThrfsTer7
XR_242246.3:n.1289del
XM_017012319.2:c.-474del	XP_016867808.1:n.-474del
XR_001744808.2:n.303del
XR_242246.5:n.1240del
NM_000466.3:c.1193del MANE Select	NP_000457.1:p.Ile398ThrfsTer7
NM_001282677.2:c.1193del	NP_001269606.1:p.Ile398ThrfsTer7
NM_001282678.2:c.569del	NP_001269607.1:p.Ile190ThrfsTer7