Canonical Allele Identifier: CA2695199571

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677612
• ClinVar RCV Id: RCV003476746

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517778_92517780dup , CM000669.2:g.92517778_92517780dup	GRCh38
NC_000007.13:g.92147092_92147094dup , CM000669.1:g.92147092_92147094dup	GRCh37
NC_000007.12:g.91985028_91985030dup	NCBI36
NG_008341.1:g.15752_15754dup
NG_008341.2:g.15752_15754dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.735_737dup MANE Select	ENSP00000248633.4:p.Trp246Ter
ENST00000248633.8:c.735_737dup	ENSP00000248633.4:p.Trp246Ter
ENST00000428214.5:c.735_737dup	ENSP00000394413.1:p.Trp246Ter
ENST00000438045.5:c.274-3813_274-3811dup	ENSP00000410438.1:n.274-3813_274-3811dup
ENST00000484913.5:n.774_776dup
NM_000466.2:c.735_737dup	NP_000457.1:p.Trp246Ter
NM_001282677.1:c.735_737dup	NP_001269606.1:p.Trp246Ter
NM_001282678.1:c.111_113dup	NP_001269607.1:p.Trp38Ter
XR_242246.3:n.831_833dup
XR_242246.5:n.782_784dup
NM_000466.3:c.735_737dup MANE Select	NP_000457.1:p.Trp246Ter
NM_001282677.2:c.735_737dup	NP_001269606.1:p.Trp246Ter
NM_001282678.2:c.111_113dup	NP_001269607.1:p.Trp38Ter