Canonical Allele Identifier: CA2580077849

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1726514
• ClinVar RCV Id: RCV002310198

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518004_92518005insATAAATTTTATAAC , CM000669.2:g.92518004_92518005insATAAATTTTATAAC	GRCh38
NC_000007.13:g.92147318_92147319insATAAATTTTATAAC , CM000669.1:g.92147318_92147319insATAAATTTTATAAC	GRCh37
NC_000007.12:g.91985254_91985255insATAAATTTTATAAC	NCBI36
NG_008341.1:g.15527_15528insGTTATAAAATTTAT
NG_008341.2:g.15527_15528insGTTATAAAATTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.510_511insGTTATAAAATTTAT MANE Select	ENSP00000248633.4:p.Thr171ValfsTer?
ENST00000248633.8:c.510_511insGTTATAAAATTTAT	ENSP00000248633.4:p.Thr171ValfsTer?
ENST00000428214.5:c.510_511insGTTATAAAATTTAT	ENSP00000394413.1:p.Thr171ValfsTer?
ENST00000438045.5:c.274-4038_274-4037insGTTATAAAATTTAT	ENSP00000410438.1:n.274-4038_274-4037insGTTATAAAATTTAT
ENST00000484913.5:n.549_550insGTTATAAAATTTAT
NM_000466.2:c.510_511insGTTATAAAATTTAT	NP_000457.1:p.Thr171ValfsTer?
NM_001282677.1:c.510_511insGTTATAAAATTTAT	NP_001269606.1:p.Thr171ValfsTer?
NM_001282678.1:c.-115_-114insGTTATAAAATTTAT	NP_001269607.1:n.-115_-114insGTTATAAAATTTAT
XR_242246.3:n.606_607insGTTATAAAATTTAT
XR_242246.5:n.557_558insGTTATAAAATTTAT
NM_000466.3:c.510_511insGTTATAAAATTTAT MANE Select	NP_000457.1:p.Thr171ValfsTer?
NM_001282677.2:c.510_511insGTTATAAAATTTAT	NP_001269606.1:p.Thr171ValfsTer?
NM_001282678.2:c.-115_-114insGTTATAAAATTTAT	NP_001269607.1:n.-115_-114insGTTATAAAATTTAT