Canonical Allele Identifier: CA2499219057

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1210452
• ClinVar RCV Id: RCV001580757
• dbSNP Id: rs2116205361

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511002del , CM000669.2:g.92511002del	GRCh38
NC_000007.13:g.92140316del , CM000669.1:g.92140316del	GRCh37
NC_000007.12:g.91978252del	NCBI36
NG_008341.1:g.22534del
NG_008341.2:g.22534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1533del MANE Select	ENSP00000248633.4:p.Asp512IlefsTer7
ENST00000248633.8:c.1533del	ENSP00000248633.4:p.Asp512IlefsTer7
ENST00000422866.1:c.434del
ENST00000428214.5:c.1533del	ENSP00000394413.1:p.Asp512IlefsTer7
ENST00000438045.5:c.567del	ENSP00000410438.1:p.Asp190IlefsTer7
ENST00000476923.1:n.294del
ENST00000484913.5:n.1572del
NM_000466.2:c.1533del	NP_000457.1:p.Asp512IlefsTer7
NM_001282677.1:c.1533del	NP_001269606.1:p.Asp512IlefsTer7
NM_001282678.1:c.909del	NP_001269607.1:p.Asp304IlefsTer7
XM_005250433.3:c.-134del	XP_005250490.1:n.-134del
XR_242246.3:n.1629del
XM_017012319.2:c.-134del	XP_016867808.1:n.-134del
XR_001744808.2:n.643del
XR_242246.5:n.1580del
NM_000466.3:c.1533del MANE Select	NP_000457.1:p.Asp512IlefsTer7
NM_001282677.2:c.1533del	NP_001269606.1:p.Asp512IlefsTer7
NM_001282678.2:c.909del	NP_001269607.1:p.Asp304IlefsTer7