Canonical Allele Identifier: CA2580077831

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2174996
• ClinVar RCV Id: RCV002588310

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517603dup , CM000669.2:g.92517603dup	GRCh38
NC_000007.13:g.92146917dup , CM000669.1:g.92146917dup	GRCh37
NC_000007.12:g.91984853dup	NCBI36
NG_008341.1:g.15929dup
NG_008341.2:g.15929dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.912dup MANE Select	ENSP00000248633.4:p.Val305CysfsTer4
ENST00000248633.8:c.912dup	ENSP00000248633.4:p.Val305CysfsTer4
ENST00000428214.5:c.912dup	ENSP00000394413.1:p.Val305CysfsTer4
ENST00000438045.5:c.274-3636dup	ENSP00000410438.1:n.274-3636dup
ENST00000484913.5:n.951dup
NM_000466.2:c.912dup	NP_000457.1:p.Val305CysfsTer4
NM_001282677.1:c.912dup	NP_001269606.1:p.Val305CysfsTer4
NM_001282678.1:c.288dup	NP_001269607.1:p.Val97CysfsTer4
XR_242246.3:n.1008dup
XM_017012319.2:c.-755dup	XP_016867808.1:n.-755dup
XR_001744808.2:n.22dup
XR_242246.5:n.959dup
NM_000466.3:c.912dup MANE Select	NP_000457.1:p.Val305CysfsTer4
NM_001282677.2:c.912dup	NP_001269606.1:p.Val305CysfsTer4
NM_001282678.2:c.288dup	NP_001269607.1:p.Val97CysfsTer4