Canonical Allele Identifier: CA2573142418

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1488849
• ClinVar RCV Id: RCV001978162
• dbSNP Id: rs2116180739

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506993_92507004del , CM000669.2:g.92506993_92507004del	GRCh38
NC_000007.13:g.92136307_92136318del , CM000669.1:g.92136307_92136318del	GRCh37
NC_000007.12:g.91974243_91974254del	NCBI36
NG_008341.1:g.26528_26539del
NG_008341.2:g.26528_26539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1793_1803+1del
ENST00000248633.8:c.1793_1803+1del
ENST00000422866.1:c.611_621+1del
ENST00000428214.5:c.1793_1803+1del
ENST00000438045.5:c.827_837+1del
ENST00000484913.5:n.1832_1842+1del
ENST00000496420.5:n.820_831del
NM_000466.2:c.1793_1803+1del
NM_001282677.1:c.1793_1803+1del
NM_001282678.1:c.1169_1179+1del
XM_005250433.3:c.44_54+1del
XR_242246.3:n.1889_1899+1del
XM_017012319.2:c.44_54+1del
XR_001744808.2:n.820_830+1del
XR_242246.5:n.1840_1850+1del
NM_000466.3:c.1793_1803+1del
NM_001282677.2:c.1793_1803+1del
NM_001282678.2:c.1169_1179+1del