Canonical Allele Identifier: CA16041151
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371747
dbSNP Id: rs1057517503

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496774del , CM000669.2:g.92496774del GRCh38
NC_000007.13:g.92126088del , CM000669.1:g.92126088del GRCh37
NC_000007.12:g.91964024del NCBI36
NG_008341.1:g.36759del
NG_008341.2:g.36759del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2723del MANE Select ENSP00000248633.4:p.Pro908GlnfsTer?
ENST00000248633.8:c.2723del ENSP00000248633.4:p.Pro908GlnfsTer?
ENST00000428214.5:n.2552del ENSP00000394413.1:p.Pro851GlnfsTer?
ENST00000438045.5:c.1757del ENSP00000410438.1:p.Pro586GlnfsTer?
ENST00000484913.5:n.2762del
ENST00000496420.5:n.2615del
NM_000466.2:c.2723del NP_000457.1:p.Pro908GlnfsTer?
NM_001282677.1:c.2552del NP_001269606.1:p.Pro851GlnfsTer?
NM_001282678.1:c.2099del NP_001269607.1:p.Pro700GlnfsTer?
XM_005250433.3:c.974del XP_005250490.1:p.Pro325GlnfsTer?
XR_242246.3:n.2819del
XM_017012319.2:c.974del XP_016867808.1:p.Pro325GlnfsTer?
XR_001744808.2:n.1750del
XR_242246.5:n.2770del
NM_000466.3:c.2723del MANE Select NP_000457.1:p.Pro908GlnfsTer?
NM_001282677.2:c.2552del NP_001269606.1:p.Pro851GlnfsTer?
NM_001282678.2:c.2099del NP_001269607.1:p.Pro700GlnfsTer?