Canonical Allele Identifier: CA2580615932

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2429151
• ClinVar RCV Id: RCV003123390 ; RCV003475530 ; RCV003759773
• gnomAD v4: 7-92510943-CTTGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510949_92510953del , CM000669.2:g.92510949_92510953del	GRCh38
NC_000007.13:g.92140263_92140267del , CM000669.1:g.92140263_92140267del	GRCh37
NC_000007.12:g.91978199_91978203del	NCBI36
NG_008341.1:g.22584_22588del
NG_008341.2:g.22584_22588del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1583_1587del MANE Select	ENSP00000248633.4:p.Ile528SerfsTer13
ENST00000248633.8:c.1583_1587del	ENSP00000248633.4:p.Ile528SerfsTer13
ENST00000422866.1:c.484_488del
ENST00000428214.5:c.1583_1587del	ENSP00000394413.1:p.Ile528SerfsTer13
ENST00000438045.5:c.617_621del	ENSP00000410438.1:p.Ile206SerfsTer13
ENST00000476923.1:n.344_348del
ENST00000484913.5:n.1622_1626del
NM_000466.2:c.1583_1587del	NP_000457.1:p.Ile528SerfsTer13
NM_001282677.1:c.1583_1587del	NP_001269606.1:p.Ile528SerfsTer13
NM_001282678.1:c.959_963del	NP_001269607.1:p.Ile320SerfsTer13
XM_005250433.3:c.-84_-80del	XP_005250490.1:n.-84_-80del
XR_242246.3:n.1679_1683del
XM_017012319.2:c.-84_-80del	XP_016867808.1:n.-84_-80del
XR_001744808.2:n.693_697del
XR_242246.5:n.1630_1634del
NM_000466.3:c.1583_1587del MANE Select	NP_000457.1:p.Ile528SerfsTer13
NM_001282677.2:c.1583_1587del	NP_001269606.1:p.Ile528SerfsTer13
NM_001282678.2:c.959_963del	NP_001269607.1:p.Ile320SerfsTer13