Canonical Allele Identifier: CA2683718950

Gene: PEX1

Linked Data

• gnomAD v4: 7-92505043-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92505048dup , CM000669.2:g.92505048dup	GRCh38
NC_000007.13:g.92134362dup , CM000669.1:g.92134362dup	GRCh37
NC_000007.12:g.91972298dup	NCBI36
NG_008341.1:g.28488dup
NG_008341.2:g.28488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-142dup MANE Select	ENSP00000248633.4:n.1901-142dup
ENST00000248633.8:c.1901-142dup	ENSP00000248633.4:n.1901-142dup
ENST00000422866.1:c.719-142dup
ENST00000428214.5:c.1900+1204dup	ENSP00000394413.1:n.1900+1204dup
ENST00000438045.5:c.935-142dup	ENSP00000410438.1:n.935-142dup
ENST00000484913.5:n.1940-142dup
ENST00000496420.5:n.1577-142dup
NM_000466.2:c.1901-142dup	NP_000457.1:n.1901-142dup
NM_001282677.1:c.1900+1204dup	NP_001269606.1:n.1900+1204dup
NM_001282678.1:c.1277-142dup	NP_001269607.1:n.1277-142dup
XM_005250433.3:c.152-142dup	XP_005250490.1:n.152-142dup
XR_242246.3:n.1997-142dup
XM_017012319.2:c.152-142dup	XP_016867808.1:n.152-142dup
XR_001744808.2:n.928-142dup
XR_242246.5:n.1948-142dup
NM_000466.3:c.1901-142dup MANE Select	NP_000457.1:n.1901-142dup
NM_001282677.2:c.1900+1204dup	NP_001269606.1:n.1900+1204dup
NM_001282678.2:c.1277-142dup	NP_001269607.1:n.1277-142dup