Canonical Allele Identifier: CA2580077828

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2093276
• ClinVar RCV Id: RCV003018639

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506251del , CM000669.2:g.92506251del	GRCh38
NC_000007.13:g.92135565del , CM000669.1:g.92135565del	GRCh37
NC_000007.12:g.91973501del	NCBI36
NG_008341.1:g.27281del
NG_008341.2:g.27281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1897del MANE Select	ENSP00000248633.4:p.Arg633GlufsTer12
ENST00000248633.8:c.1897del	ENSP00000248633.4:p.Arg633GlufsTer12
ENST00000422866.1:c.715del
ENST00000428214.5:c.1897del	ENSP00000394413.1:p.Arg633GlufsTer3
ENST00000438045.5:c.931del	ENSP00000410438.1:p.Arg311GlufsTer12
ENST00000484913.5:n.1936del
ENST00000496420.5:n.1573del
NM_000466.2:c.1897del	NP_000457.1:p.Arg633GlufsTer12
NM_001282677.1:c.1897del	NP_001269606.1:p.Arg633GlufsTer3
NM_001282678.1:c.1273del	NP_001269607.1:p.Arg425GlufsTer12
XM_005250433.3:c.148del	XP_005250490.1:p.Arg50GlufsTer12
XR_242246.3:n.1993del
XM_017012319.2:c.148del	XP_016867808.1:p.Arg50GlufsTer12
XR_001744808.2:n.924del
XR_242246.5:n.1944del
NM_000466.3:c.1897del MANE Select	NP_000457.1:p.Arg633GlufsTer12
NM_001282677.2:c.1897del	NP_001269606.1:p.Arg633GlufsTer3
NM_001282678.2:c.1273del	NP_001269607.1:p.Arg425GlufsTer12