Canonical Allele Identifier: CA2683718797

Gene: PEX1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504773dup , CM000669.2:g.92504773dup	GRCh38
NC_000007.13:g.92134087dup , CM000669.1:g.92134087dup	GRCh37
NC_000007.12:g.91972023dup	NCBI36
NG_008341.1:g.28759dup
NG_008341.2:g.28759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2030dup MANE Select	ENSP00000248633.4:p.His678AlafsTer4
ENST00000248633.8:c.2030dup	ENSP00000248633.4:p.His678AlafsTer4
ENST00000428214.5:c.1900+1475dup	ENSP00000394413.1:n.1900+1475dup
ENST00000438045.5:c.1064dup	ENSP00000410438.1:p.His356AlafsTer4
ENST00000484913.5:n.2069dup
ENST00000496420.5:n.1706dup
NM_000466.2:c.2030dup	NP_000457.1:p.His678AlafsTer4
NM_001282677.1:c.1900+1475dup	NP_001269606.1:n.1900+1475dup
NM_001282678.1:c.1406dup	NP_001269607.1:p.His470AlafsTer4
XM_005250433.3:c.281dup	XP_005250490.1:p.His95AlafsTer4
XR_242246.3:n.2126dup
XM_017012319.2:c.281dup	XP_016867808.1:p.His95AlafsTer4
XR_001744808.2:n.1057dup
XR_242246.5:n.2077dup
NM_000466.3:c.2030dup MANE Select	NP_000457.1:p.His678AlafsTer4
NM_001282677.2:c.1900+1475dup	NP_001269606.1:n.1900+1475dup
NM_001282678.2:c.1406dup	NP_001269607.1:p.His470AlafsTer4