Canonical Allele Identifier: CA2683720800

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518349-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518353dup , CM000669.2:g.92518353dup	GRCh38
NC_000007.13:g.92147667dup , CM000669.1:g.92147667dup	GRCh37
NC_000007.12:g.91985603dup	NCBI36
NG_008341.1:g.15182dup
NG_008341.2:g.15182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-95dup MANE Select	ENSP00000248633.4:n.358-95dup
ENST00000248633.8:c.358-95dup	ENSP00000248633.4:n.358-95dup
ENST00000428214.5:c.358-95dup	ENSP00000394413.1:n.358-95dup
ENST00000438045.5:c.273+3752dup	ENSP00000410438.1:n.273+3752dup
ENST00000484913.5:n.397-95dup
NM_000466.2:c.358-95dup	NP_000457.1:n.358-95dup
NM_001282677.1:c.358-95dup	NP_001269606.1:n.358-95dup
NM_001282678.1:c.-267-95dup	NP_001269607.1:n.-267-95dup
XR_242246.3:n.454-95dup
XR_242246.5:n.405-95dup
NM_000466.3:c.358-95dup MANE Select	NP_000457.1:n.358-95dup
NM_001282677.2:c.358-95dup	NP_001269606.1:n.358-95dup
NM_001282678.2:c.-267-95dup	NP_001269607.1:n.-267-95dup