Canonical Allele Identifier: CA1139660132

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 938252
• ClinVar RCV Id: RCV001207439
• dbSNP Id: rs1791544171

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494488del , CM000669.2:g.92494488del	GRCh38
NC_000007.13:g.92123802del , CM000669.1:g.92123802del	GRCh37
NC_000007.12:g.91961738del	NCBI36
NG_008341.1:g.39046del
NG_008341.2:g.39046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+1del (PEX1)
ENST00000248633.8:c.2926+1del (PEX1)
ENST00000428214.5:c.2755+1del (PEX1)
ENST00000438045.5:c.1960+1del (PEX1)
ENST00000484913.5:n.2965+1del (PEX1)
ENST00000496420.5:n.2818+1del (PEX1)
NM_000466.2:c.2926+1del (PEX1)
NM_001282677.1:c.2755+1del (PEX1)
NM_001282678.1:c.2302+1del (PEX1)
XM_005250433.3:c.1177+1del (PEX1)
XR_242246.3:n.3022+1del (PEX1)
XM_017012319.2:c.1177+1del (PEX1)
XR_001744808.2:n.1953+1del (PEX1)
XR_001744843.2:n.5457del (GATAD1)
XR_242246.5:n.2973+1del (PEX1)
XR_927494.3:n.4308del (GATAD1)
XR_927503.3:n.4239del (GATAD1)
NM_000466.3:c.2926+1del (PEX1)
NM_001282677.2:c.2755+1del (PEX1)
NM_001282678.2:c.2302+1del (PEX1)