Canonical Allele Identifier: CA4341278
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371703
dbSNP Id: rs267608176

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506308del , CM000669.2:g.92506308del GRCh38
NC_000007.13:g.92135622del , CM000669.1:g.92135622del GRCh37
NC_000007.12:g.91973558del NCBI36
NG_008341.1:g.27226del
NG_008341.2:g.27226del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1842del MANE Select ENSP00000248633.4:p.Glu615LysfsTer?
ENST00000248633.8:c.1842del ENSP00000248633.4:p.Glu615LysfsTer?
ENST00000422866.1:n.660del
ENST00000428214.5:n.1842del ENSP00000394413.1:p.Glu615LysfsTer21
ENST00000438045.5:c.876del ENSP00000410438.1:p.Glu293LysfsTer?
ENST00000484913.5:n.1881del
ENST00000496420.5:n.1518del
NM_000466.2:c.1842del NP_000457.1:p.Glu615LysfsTer?
NM_001282677.1:c.1842del NP_001269606.1:p.Glu615LysfsTer21
NM_001282678.1:c.1218del NP_001269607.1:p.Glu407LysfsTer?
XM_005250433.3:c.93del XP_005250490.1:p.Glu32LysfsTer?
XR_242246.3:n.1938del
XM_017012319.2:c.93del XP_016867808.1:p.Glu32LysfsTer?
XR_001744808.2:n.869del
XR_242246.5:n.1889del
NM_000466.3:c.1842del MANE Select NP_000457.1:p.Glu615LysfsTer?
NM_001282677.2:c.1842del NP_001269606.1:p.Glu615LysfsTer21
NM_001282678.2:c.1218del NP_001269607.1:p.Glu407LysfsTer?