Canonical Allele Identifier: CA2580077812

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2100386
• ClinVar RCV Id: RCV003014370

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502072del , CM000669.2:g.92502072del	GRCh38
NC_000007.13:g.92131386del , CM000669.1:g.92131386del	GRCh37
NC_000007.12:g.91969322del	NCBI36
NG_008341.1:g.31460del
NG_008341.2:g.31460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2234del MANE Select	ENSP00000248633.4:p.Arg745AsnfsTer8
ENST00000248633.8:c.2234del	ENSP00000248633.4:p.Arg745AsnfsTer8
ENST00000428214.5:c.2063del	ENSP00000394413.1:p.Arg688AsnfsTer8
ENST00000438045.5:c.1268del	ENSP00000410438.1:p.Arg423AsnfsTer8
ENST00000484913.5:n.2273del
ENST00000496092.1:n.32del
ENST00000496420.5:n.1910del
NM_000466.2:c.2234del	NP_000457.1:p.Arg745AsnfsTer8
NM_001282677.1:c.2063del	NP_001269606.1:p.Arg688AsnfsTer8
NM_001282678.1:c.1610del	NP_001269607.1:p.Arg537AsnfsTer8
XM_005250433.3:c.485del	XP_005250490.1:p.Arg162AsnfsTer8
XR_242246.3:n.2330del
XM_017012319.2:c.485del	XP_016867808.1:p.Arg162AsnfsTer8
XR_001744808.2:n.1261del
XR_242246.5:n.2281del
NM_000466.3:c.2234del MANE Select	NP_000457.1:p.Arg745AsnfsTer8
NM_001282677.2:c.2063del	NP_001269606.1:p.Arg688AsnfsTer8
NM_001282678.2:c.1610del	NP_001269607.1:p.Arg537AsnfsTer8