Canonical Allele Identifier: CA16041172

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371752
• ClinVar RCV Id: RCV000410137 ; RCV000412173
• dbSNP Id: rs1057517506
• MyVariant Identifiers: chr7:g.92147496dupG (hg19) ; chr7:g.92147495_92147496insG (hg19) ; chr7:g.92518182dupG (hg38) ; chr7:g.92518181_92518182insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518183dup , CM000669.2:g.92518183dup	GRCh38
NC_000007.13:g.92147497dup , CM000669.1:g.92147497dup	GRCh37
NC_000007.12:g.91985433dup	NCBI36
NG_008341.1:g.15350dup
NG_008341.2:g.15350dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.431dup MANE Select	ENSP00000248633.4:p.Val145CysfsTer4
ENST00000248633.8:c.431dup	ENSP00000248633.4:p.Val145CysfsTer4
ENST00000428214.5:c.431dup	ENSP00000394413.1:p.Val145CysfsTer4
ENST00000438045.5:c.273+3920dup	ENSP00000410438.1:n.273+3920dup
ENST00000484913.5:n.470dup
NM_000466.2:c.431dup	NP_000457.1:p.Val145CysfsTer4
NM_001282677.1:c.431dup	NP_001269606.1:p.Val145CysfsTer4
NM_001282678.1:c.-194dup	NP_001269607.1:n.-194dup
XR_242246.3:n.527dup
XR_242246.5:n.478dup
NM_000466.3:c.431dup MANE Select	NP_000457.1:p.Val145CysfsTer4
NM_001282677.2:c.431dup	NP_001269606.1:p.Val145CysfsTer4
NM_001282678.2:c.-194dup	NP_001269607.1:n.-194dup