Canonical Allele Identifier: CA2580077512

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1725101
• ClinVar RCV Id: RCV002308160

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494322del , CM000669.2:g.92494322del	GRCh38
NC_000007.13:g.92123636del , CM000669.1:g.92123636del	GRCh37
NC_000007.12:g.91961572del	NCBI36
NG_008341.1:g.39212del
NG_008341.2:g.39212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3003del (PEX1) MANE Select	ENSP00000248633.4:p.Lys1001AsnfsTer17
ENST00000248633.8:c.3003del (PEX1)	ENSP00000248633.4:p.Lys1001AsnfsTer17
ENST00000428214.5:c.2832del (PEX1)	ENSP00000394413.1:p.Lys944AsnfsTer17
ENST00000438045.5:c.2037del (PEX1)	ENSP00000410438.1:p.Lys679AsnfsTer17
ENST00000484913.5:n.3042del (PEX1)
ENST00000496420.5:n.2895del (PEX1)
NM_000466.2:c.3003del (PEX1)	NP_000457.1:p.Lys1001AsnfsTer17
NM_001282677.1:c.2832del (PEX1)	NP_001269606.1:p.Lys944AsnfsTer17
NM_001282678.1:c.2379del (PEX1)	NP_001269607.1:p.Lys793AsnfsTer17
XM_005250433.3:c.1254del (PEX1)	XP_005250490.1:p.Lys418AsnfsTer17
XR_242246.3:n.3099del (PEX1)
XM_017012319.2:c.1254del (PEX1)	XP_016867808.1:p.Lys418AsnfsTer17
XR_001744808.2:n.2030del (PEX1)
XR_001744843.2:n.5291del (GATAD1)
XR_242246.5:n.3050del (PEX1)
XR_927494.3:n.4142del (GATAD1)
XR_927503.3:n.4073del (GATAD1)
NM_000466.3:c.3003del (PEX1) MANE Select	NP_000457.1:p.Lys1001AsnfsTer17
NM_001282677.2:c.2832del (PEX1)	NP_001269606.1:p.Lys944AsnfsTer17
NM_001282678.2:c.2379del (PEX1)	NP_001269607.1:p.Lys793AsnfsTer17