Canonical Allele Identifier: CA2580077826

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2113068
• ClinVar RCV Id: RCV003027133

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506229_92506232del , CM000669.2:g.92506229_92506232del	GRCh38
NC_000007.13:g.92135543_92135546del , CM000669.1:g.92135543_92135546del	GRCh37
NC_000007.12:g.91973479_91973482del	NCBI36
NG_008341.1:g.27301_27304del
NG_008341.2:g.27301_27304del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+17_1900+20del MANE Select	ENSP00000248633.4:n.1900+17_1900+20del
ENST00000248633.8:c.1900+17_1900+20del	ENSP00000248633.4:n.1900+17_1900+20del
ENST00000422866.1:c.718+17_718+20del
ENST00000428214.5:c.1900+17_1900+20del	ENSP00000394413.1:n.1900+17_1900+20del
ENST00000438045.5:c.934+17_934+20del	ENSP00000410438.1:n.934+17_934+20del
ENST00000484913.5:n.1939+17_1939+20del
ENST00000496420.5:n.1576+17_1576+20del
NM_000466.2:c.1900+17_1900+20del	NP_000457.1:n.1900+17_1900+20del
NM_001282677.1:c.1900+17_1900+20del	NP_001269606.1:n.1900+17_1900+20del
NM_001282678.1:c.1276+17_1276+20del	NP_001269607.1:n.1276+17_1276+20del
XM_005250433.3:c.151+17_151+20del	XP_005250490.1:n.151+17_151+20del
XR_242246.3:n.1996+17_1996+20del
XM_017012319.2:c.151+17_151+20del	XP_016867808.1:n.151+17_151+20del
XR_001744808.2:n.927+17_927+20del
XR_242246.5:n.1947+17_1947+20del
NM_000466.3:c.1900+17_1900+20del MANE Select	NP_000457.1:n.1900+17_1900+20del
NM_001282677.2:c.1900+17_1900+20del	NP_001269606.1:n.1900+17_1900+20del
NM_001282678.2:c.1276+17_1276+20del	NP_001269607.1:n.1276+17_1276+20del