Canonical Allele Identifier: CA2580077829

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725253
• ClinVar RCV Id: RCV002308312

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506255del , CM000669.2:g.92506255del	GRCh38
NC_000007.13:g.92135569del , CM000669.1:g.92135569del	GRCh37
NC_000007.12:g.91973505del	NCBI36
NG_008341.1:g.27279del
NG_008341.2:g.27279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1895del MANE Select	ENSP00000248633.4:p.Leu632TyrfsTer13
ENST00000248633.8:c.1895del	ENSP00000248633.4:p.Leu632TyrfsTer13
ENST00000422866.1:c.713del
ENST00000428214.5:c.1895del	ENSP00000394413.1:p.Leu632TyrfsTer4
ENST00000438045.5:c.929del	ENSP00000410438.1:p.Leu310TyrfsTer13
ENST00000484913.5:n.1934del
ENST00000496420.5:n.1571del
NM_000466.2:c.1895del	NP_000457.1:p.Leu632TyrfsTer13
NM_001282677.1:c.1895del	NP_001269606.1:p.Leu632TyrfsTer4
NM_001282678.1:c.1271del	NP_001269607.1:p.Leu424TyrfsTer13
XM_005250433.3:c.146del	XP_005250490.1:p.Leu49TyrfsTer13
XR_242246.3:n.1991del
XM_017012319.2:c.146del	XP_016867808.1:p.Leu49TyrfsTer13
XR_001744808.2:n.922del
XR_242246.5:n.1942del
NM_000466.3:c.1895del MANE Select	NP_000457.1:p.Leu632TyrfsTer13
NM_001282677.2:c.1895del	NP_001269606.1:p.Leu632TyrfsTer4
NM_001282678.2:c.1271del	NP_001269607.1:p.Leu424TyrfsTer13