Canonical Allele Identifier: CA2683720842

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518407-A-AACCATTATACTATC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518407_92518408insACCATTATACTATC , CM000669.2:g.92518407_92518408insACCATTATACTATC	GRCh38
NC_000007.13:g.92147721_92147722insACCATTATACTATC , CM000669.1:g.92147721_92147722insACCATTATACTATC	GRCh37
NC_000007.12:g.91985657_91985658insACCATTATACTATC	NCBI36
NG_008341.1:g.15124_15125insGATAGTATAATGGT
NG_008341.2:g.15124_15125insGATAGTATAATGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-153_358-152insGATAGTATAATGGT MANE Select	ENSP00000248633.4:n.358-153_358-152insGATAGTATAATGGT
ENST00000248633.8:c.358-153_358-152insGATAGTATAATGGT	ENSP00000248633.4:n.358-153_358-152insGATAGTATAATGGT
ENST00000428214.5:c.358-153_358-152insGATAGTATAATGGT	ENSP00000394413.1:n.358-153_358-152insGATAGTATAATGGT
ENST00000438045.5:c.273+3694_273+3695insGATAGTATAATGGT	ENSP00000410438.1:n.273+3694_273+3695insGATAGTATAATGGT
ENST00000484913.5:n.397-153_397-152insGATAGTATAATGGT
NM_000466.2:c.358-153_358-152insGATAGTATAATGGT	NP_000457.1:n.358-153_358-152insGATAGTATAATGGT
NM_001282677.1:c.358-153_358-152insGATAGTATAATGGT	NP_001269606.1:n.358-153_358-152insGATAGTATAATGGT
NM_001282678.1:c.-267-153_-267-152insGATAGTATAATGGT	NP_001269607.1:n.-267-153_-267-152insGATAGTATAATGGT
XR_242246.3:n.454-153_454-152insGATAGTATAATGGT
XR_242246.5:n.405-153_405-152insGATAGTATAATGGT
NM_000466.3:c.358-153_358-152insGATAGTATAATGGT MANE Select	NP_000457.1:n.358-153_358-152insGATAGTATAATGGT
NM_001282677.2:c.358-153_358-152insGATAGTATAATGGT	NP_001269606.1:n.358-153_358-152insGATAGTATAATGGT
NM_001282678.2:c.-267-153_-267-152insGATAGTATAATGGT	NP_001269607.1:n.-267-153_-267-152insGATAGTATAATGGT