Canonical Allele Identifier: CA2499219044

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1068947
• ClinVar RCV Id: RCV001380651
• dbSNP Id: rs2116059954

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491454del , CM000669.2:g.92491454del	GRCh38
NC_000007.13:g.92120768del , CM000669.1:g.92120768del	GRCh37
NC_000007.12:g.91958704del	NCBI36
NG_008341.1:g.42080del
NG_008341.2:g.42080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3258del (PEX1) MANE Select	ENSP00000248633.4:p.Asn1088ThrfsTer17
ENST00000248633.8:c.3258del (PEX1)	ENSP00000248633.4:p.Asn1088ThrfsTer17
ENST00000428214.5:c.3087del (PEX1)	ENSP00000394413.1:p.Asn1031ThrfsTer17
ENST00000438045.5:c.2292del (PEX1)	ENSP00000410438.1:p.Asn766ThrfsTer17
ENST00000484913.5:n.3297del (PEX1)
ENST00000496420.5:n.4313del (PEX1)
NM_000466.2:c.3258del (PEX1)	NP_000457.1:p.Asn1088ThrfsTer17
NM_001282677.1:c.3087del (PEX1)	NP_001269606.1:p.Asn1031ThrfsTer17
NM_001282678.1:c.2634del (PEX1)	NP_001269607.1:p.Asn880ThrfsTer17
XM_005250433.3:c.1509del (PEX1)	XP_005250490.1:p.Asn505ThrfsTer17
XR_242246.3:n.3354del (PEX1)
XM_017012319.2:c.1509del (PEX1)	XP_016867808.1:p.Asn505ThrfsTer17
XR_001744808.2:n.2285del (PEX1)
XR_001744842.2:n.2492del (GATAD1)
XR_001744843.2:n.2423del (GATAD1)
XR_002956472.1:n.2549del (GATAD1)
XR_002956473.1:n.2580del (GATAD1)
XR_002956474.1:n.2497del (GATAD1)
XR_242246.5:n.3305del (PEX1)
XR_927494.3:n.1274del (GATAD1)
XR_927500.3:n.1271del (GATAD1)
XR_927503.3:n.1205del (GATAD1)
NM_000466.3:c.3258del (PEX1) MANE Select	NP_000457.1:p.Asn1088ThrfsTer17
NM_001282677.2:c.3087del (PEX1)	NP_001269606.1:p.Asn1031ThrfsTer17
NM_001282678.2:c.2634del (PEX1)	NP_001269607.1:p.Asn880ThrfsTer17