Canonical Allele Identifier: CA2840673844

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517557_92517559del , CM000669.2:g.92517557_92517559del	GRCh38
NC_000007.13:g.92146871_92146873del , CM000669.1:g.92146871_92146873del	GRCh37
NC_000007.12:g.91984807_91984809del	NCBI36
NG_008341.1:g.15974_15976del
NG_008341.2:g.15974_15976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.957_959del MANE Select	ENSP00000248633.4:p.Glu320del
ENST00000248633.8:c.957_959del	ENSP00000248633.4:p.Glu320del
ENST00000428214.5:c.957_959del	ENSP00000394413.1:p.Glu320del
ENST00000438045.5:c.274-3591_274-3589del	ENSP00000410438.1:n.274-3591_274-3589del
ENST00000484913.5:n.996_998del
NM_000466.2:c.957_959del	NP_000457.1:p.Glu320del
NM_001282677.1:c.957_959del	NP_001269606.1:p.Glu320del
NM_001282678.1:c.333_335del	NP_001269607.1:p.Glu112del
XR_242246.3:n.1053_1055del
XM_017012319.2:c.-710_-708del	XP_016867808.1:n.-710_-708del
XR_001744808.2:n.67_69del
XR_242246.5:n.1004_1006del
NM_000466.3:c.957_959del MANE Select	NP_000457.1:p.Glu320del
NM_001282677.2:c.957_959del	NP_001269606.1:p.Glu320del
NM_001282678.2:c.333_335del	NP_001269607.1:p.Glu112del