Canonical Allele Identifier: CA2776947274

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510994dup , CM000669.2:g.92510994dup	GRCh38
NC_000007.13:g.92140308dup , CM000669.1:g.92140308dup	GRCh37
NC_000007.12:g.91978244dup	NCBI36
NG_008341.1:g.22542dup
NG_008341.2:g.22542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1541dup MANE Select	ENSP00000248633.4:p.Asn514LysfsTer29
ENST00000248633.8:c.1541dup	ENSP00000248633.4:p.Asn514LysfsTer29
ENST00000422866.1:c.442dup
ENST00000428214.5:c.1541dup	ENSP00000394413.1:p.Asn514LysfsTer29
ENST00000438045.5:c.575dup	ENSP00000410438.1:p.Asn192LysfsTer29
ENST00000476923.1:n.302dup
ENST00000484913.5:n.1580dup
NM_000466.2:c.1541dup	NP_000457.1:p.Asn514LysfsTer29
NM_001282677.1:c.1541dup	NP_001269606.1:p.Asn514LysfsTer29
NM_001282678.1:c.917dup	NP_001269607.1:p.Asn306LysfsTer29
XM_005250433.3:c.-126dup	XP_005250490.1:n.-126dup
XR_242246.3:n.1637dup
XM_017012319.2:c.-126dup	XP_016867808.1:n.-126dup
XR_001744808.2:n.651dup
XR_242246.5:n.1588dup
NM_000466.3:c.1541dup MANE Select	NP_000457.1:p.Asn514LysfsTer29
NM_001282677.2:c.1541dup	NP_001269606.1:p.Asn514LysfsTer29
NM_001282678.2:c.917dup	NP_001269607.1:p.Asn306LysfsTer29