Canonical Allele Identifier: CA2776946273

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502134dup , CM000669.2:g.92502134dup	GRCh38
NC_000007.13:g.92131448dup , CM000669.1:g.92131448dup	GRCh37
NC_000007.12:g.91969384dup	NCBI36
NG_008341.1:g.31402dup
NG_008341.2:g.31402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-51dup MANE Select	ENSP00000248633.4:n.2227-51dup
ENST00000248633.8:c.2227-51dup	ENSP00000248633.4:n.2227-51dup
ENST00000428214.5:c.2056-51dup	ENSP00000394413.1:n.2056-51dup
ENST00000438045.5:c.1261-51dup	ENSP00000410438.1:n.1261-51dup
ENST00000484913.5:n.2266-51dup
ENST00000496092.1:n.25-51dup
ENST00000496420.5:n.1903-51dup
NM_000466.2:c.2227-51dup	NP_000457.1:n.2227-51dup
NM_001282677.1:c.2056-51dup	NP_001269606.1:n.2056-51dup
NM_001282678.1:c.1603-51dup	NP_001269607.1:n.1603-51dup
XM_005250433.3:c.478-51dup	XP_005250490.1:n.478-51dup
XR_242246.3:n.2323-51dup
XM_017012319.2:c.478-51dup	XP_016867808.1:n.478-51dup
XR_001744808.2:n.1254-51dup
XR_242246.5:n.2274-51dup
NM_000466.3:c.2227-51dup MANE Select	NP_000457.1:n.2227-51dup
NM_001282677.2:c.2056-51dup	NP_001269606.1:n.2056-51dup
NM_001282678.2:c.1603-51dup	NP_001269607.1:n.1603-51dup