Canonical Allele Identifier: CA3005626757

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518904dup , CM000669.2:g.92518904dup	GRCh38
NC_000007.13:g.92148218dup , CM000669.1:g.92148218dup	GRCh37
NC_000007.12:g.91986154dup	NCBI36
NG_008341.1:g.14629dup
NG_008341.2:g.14629dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+92dup MANE Select	ENSP00000248633.4:n.357+92dup
ENST00000248633.8:c.357+92dup	ENSP00000248633.4:n.357+92dup
ENST00000428214.5:c.357+92dup	ENSP00000394413.1:n.357+92dup
ENST00000438045.5:c.273+3199dup	ENSP00000410438.1:n.273+3199dup
ENST00000484913.5:n.396+57dup
NM_000466.2:c.357+92dup	NP_000457.1:n.357+92dup
NM_001282677.1:c.357+92dup	NP_001269606.1:n.357+92dup
NM_001282678.1:c.-268+57dup	NP_001269607.1:n.-268+57dup
XR_242246.3:n.453+92dup
XR_242246.5:n.404+92dup
NM_000466.3:c.357+92dup MANE Select	NP_000457.1:n.357+92dup
NM_001282677.2:c.357+92dup	NP_001269606.1:n.357+92dup
NM_001282678.2:c.-268+57dup	NP_001269607.1:n.-268+57dup