Canonical Allele Identifier: CA2683720534

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518022-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518024dup , CM000669.2:g.92518024dup	GRCh38
NC_000007.13:g.92147338dup , CM000669.1:g.92147338dup	GRCh37
NC_000007.12:g.91985274dup	NCBI36
NG_008341.1:g.15509dup
NG_008341.2:g.15509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.492dup MANE Select	ENSP00000248633.4:p.Ser165LeufsTer8
ENST00000248633.8:c.492dup	ENSP00000248633.4:p.Ser165LeufsTer8
ENST00000428214.5:c.492dup	ENSP00000394413.1:p.Ser165LeufsTer8
ENST00000438045.5:c.274-4056dup	ENSP00000410438.1:n.274-4056dup
ENST00000484913.5:n.531dup
NM_000466.2:c.492dup	NP_000457.1:p.Ser165LeufsTer8
NM_001282677.1:c.492dup	NP_001269606.1:p.Ser165LeufsTer8
NM_001282678.1:c.-133dup	NP_001269607.1:n.-133dup
XR_242246.3:n.588dup
XR_242246.5:n.539dup
NM_000466.3:c.492dup MANE Select	NP_000457.1:p.Ser165LeufsTer8
NM_001282677.2:c.492dup	NP_001269606.1:p.Ser165LeufsTer8
NM_001282678.2:c.-133dup	NP_001269607.1:n.-133dup