Canonical Allele Identifier: CA2580077830

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1724444
• ClinVar RCV Id: RCV002309712

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506326_92506327del , CM000669.2:g.92506326_92506327del	GRCh38
NC_000007.13:g.92135640_92135641del , CM000669.1:g.92135640_92135641del	GRCh37
NC_000007.12:g.91973576_91973577del	NCBI36
NG_008341.1:g.27206_27207del
NG_008341.2:g.27206_27207del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1822_1823del MANE Select	ENSP00000248633.4:p.Leu608SerfsTer6
ENST00000248633.8:c.1822_1823del	ENSP00000248633.4:p.Leu608SerfsTer6
ENST00000422866.1:c.640_641del
ENST00000428214.5:c.1822_1823del	ENSP00000394413.1:p.Leu608SerfsTer6
ENST00000438045.5:c.856_857del	ENSP00000410438.1:p.Leu286SerfsTer6
ENST00000484913.5:n.1861_1862del
ENST00000496420.5:n.1498_1499del
NM_000466.2:c.1822_1823del	NP_000457.1:p.Leu608SerfsTer6
NM_001282677.1:c.1822_1823del	NP_001269606.1:p.Leu608SerfsTer6
NM_001282678.1:c.1198_1199del	NP_001269607.1:p.Leu400SerfsTer6
XM_005250433.3:c.73_74del	XP_005250490.1:p.Leu25SerfsTer6
XR_242246.3:n.1918_1919del
XM_017012319.2:c.73_74del	XP_016867808.1:p.Leu25SerfsTer6
XR_001744808.2:n.849_850del
XR_242246.5:n.1869_1870del
NM_000466.3:c.1822_1823del MANE Select	NP_000457.1:p.Leu608SerfsTer6
NM_001282677.2:c.1822_1823del	NP_001269606.1:p.Leu608SerfsTer6
NM_001282678.2:c.1198_1199del	NP_001269607.1:p.Leu400SerfsTer6