Canonical Allele Identifier: CA2578937880
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496738del , CM000669.2:g.92496738del GRCh38
NC_000007.13:g.92126052del , CM000669.1:g.92126052del GRCh37
NC_000007.12:g.91963988del NCBI36
NG_008341.1:g.36794del
NG_008341.2:g.36794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2758del MANE Select ENSP00000248633.4:p.Gln920LysfsTer?
ENST00000248633.8:c.2758del ENSP00000248633.4:p.Gln920LysfsTer?
ENST00000428214.5:c.2587del ENSP00000394413.1:p.Gln863LysfsTer?
ENST00000438045.5:c.1792del ENSP00000410438.1:p.Gln598LysfsTer?
ENST00000484913.5:n.2797del
ENST00000496420.5:n.2650del
NM_000466.2:c.2758del NP_000457.1:p.Gln920LysfsTer?
NM_001282677.1:c.2587del NP_001269606.1:p.Gln863LysfsTer?
NM_001282678.1:c.2134del NP_001269607.1:p.Gln712LysfsTer?
XM_005250433.3:c.1009del XP_005250490.1:p.Gln337LysfsTer?
XR_242246.3:n.2854del
XM_017012319.2:c.1009del XP_016867808.1:p.Gln337LysfsTer?
XR_001744808.2:n.1785del
XR_242246.5:n.2805del
NM_000466.3:c.2758del MANE Select NP_000457.1:p.Gln920LysfsTer?
NM_001282677.2:c.2587del NP_001269606.1:p.Gln863LysfsTer?
NM_001282678.2:c.2134del NP_001269607.1:p.Gln712LysfsTer?