Canonical Allele Identifier: CA2695199557

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2677604
• ClinVar RCV Id: RCV003476738

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494293del , CM000669.2:g.92494293del	GRCh38
NC_000007.13:g.92123607del , CM000669.1:g.92123607del	GRCh37
NC_000007.12:g.91961543del	NCBI36
NG_008341.1:g.39240del
NG_008341.2:g.39240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+1del (PEX1)
ENST00000248633.8:c.3030+1del (PEX1)
ENST00000428214.5:c.2859+1del (PEX1)
ENST00000438045.5:c.2064+1del (PEX1)
ENST00000484913.5:n.3069+1del (PEX1)
ENST00000496420.5:n.2923del (PEX1)
NM_000466.2:c.3030+1del (PEX1)
NM_001282677.1:c.2859+1del (PEX1)
NM_001282678.1:c.2406+1del (PEX1)
XM_005250433.3:c.1281+1del (PEX1)
XR_242246.3:n.3126+1del (PEX1)
XM_017012319.2:c.1281+1del (PEX1)
XR_001744808.2:n.2057+1del (PEX1)
XR_001744843.2:n.5262del (GATAD1)
XR_242246.5:n.3077+1del (PEX1)
XR_927494.3:n.4113del (GATAD1)
XR_927503.3:n.4044del (GATAD1)
NM_000466.3:c.3030+1del (PEX1)
NM_001282677.2:c.2859+1del (PEX1)
NM_001282678.2:c.2406+1del (PEX1)