Canonical Allele Identifier: CA2838747683

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504684dup , CM000669.2:g.92504684dup	GRCh38
NC_000007.13:g.92133998dup , CM000669.1:g.92133998dup	GRCh37
NC_000007.12:g.91971934dup	NCBI36
NG_008341.1:g.28848dup
NG_008341.2:g.28848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2071+48dup MANE Select	ENSP00000248633.4:n.2071+48dup
ENST00000248633.8:c.2071+48dup	ENSP00000248633.4:n.2071+48dup
ENST00000428214.5:c.1901-1489dup	ENSP00000394413.1:n.1901-1489dup
ENST00000438045.5:c.1105+48dup	ENSP00000410438.1:n.1105+48dup
ENST00000484913.5:n.2110+48dup
ENST00000496420.5:n.1747+48dup
NM_000466.2:c.2071+48dup	NP_000457.1:n.2071+48dup
NM_001282677.1:c.1901-1489dup	NP_001269606.1:n.1901-1489dup
NM_001282678.1:c.1447+48dup	NP_001269607.1:n.1447+48dup
XM_005250433.3:c.322+48dup	XP_005250490.1:n.322+48dup
XR_242246.3:n.2167+48dup
XM_017012319.2:c.322+48dup	XP_016867808.1:n.322+48dup
XR_001744808.2:n.1098+48dup
XR_242246.5:n.2118+48dup
NM_000466.3:c.2071+48dup MANE Select	NP_000457.1:n.2071+48dup
NM_001282677.2:c.1901-1489dup	NP_001269606.1:n.1901-1489dup
NM_001282678.2:c.1447+48dup	NP_001269607.1:n.1447+48dup