Canonical Allele Identifier: CA2683720660

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518154-T-TATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518155_92518157dup , CM000669.2:g.92518155_92518157dup	GRCh38
NC_000007.13:g.92147469_92147471dup , CM000669.1:g.92147469_92147471dup	GRCh37
NC_000007.12:g.91985405_91985407dup	NCBI36
NG_008341.1:g.15375_15377dup
NG_008341.2:g.15375_15377dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.456_458dup MANE Select	ENSP00000248633.4:p.Ile153_Phe154insIle
ENST00000248633.8:c.456_458dup	ENSP00000248633.4:p.Ile153_Phe154insIle
ENST00000428214.5:c.456_458dup	ENSP00000394413.1:p.Ile153_Phe154insIle
ENST00000438045.5:c.273+3945_273+3947dup	ENSP00000410438.1:n.273+3945_273+3947dup
ENST00000484913.5:n.495_497dup
NM_000466.2:c.456_458dup	NP_000457.1:p.Ile153_Phe154insIle
NM_001282677.1:c.456_458dup	NP_001269606.1:p.Ile153_Phe154insIle
NM_001282678.1:c.-169_-167dup	NP_001269607.1:n.-169_-167dup
XR_242246.3:n.552_554dup
XR_242246.5:n.503_505dup
NM_000466.3:c.456_458dup MANE Select	NP_000457.1:p.Ile153_Phe154insIle
NM_001282677.2:c.456_458dup	NP_001269606.1:p.Ile153_Phe154insIle
NM_001282678.2:c.-169_-167dup	NP_001269607.1:n.-169_-167dup