Canonical Allele Identifier: CA1725937149
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503177_92503182delinsTTTATC , CM000669.2:g.92503177_92503182delinsTTTATC GRCh38
NC_000007.13:g.92132491_92132496delinsTTTATC , CM000669.1:g.92132491_92132496delinsTTTATC GRCh37
NC_000007.12:g.91970427_91970432delinsTTTATC NCBI36
NG_008341.1:g.30350_30355delinsGATAAA
NG_008341.2:g.30350_30355delinsGATAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2085_2090delinsGATAAA MANE Select ENSP00000248633.4:p.Met695=
ENST00000248633.8:c.2085_2090delinsGATAAA ENSP00000248633.4:p.Met695=
ENST00000428214.5:c.1914_1919delinsGATAAA ENSP00000394413.1:p.Met638=
ENST00000438045.5:c.1119_1124delinsGATAAA ENSP00000410438.1:p.Met373=
ENST00000484913.5:n.2124_2129delinsGATAAA
ENST00000496420.5:n.1761_1766delinsGATAAA
NM_000466.2:c.2085_2090delinsGATAAA NP_000457.1:p.Met695=
NM_001282677.1:c.1914_1919delinsGATAAA NP_001269606.1:p.Met638=
NM_001282678.1:c.1461_1466delinsGATAAA NP_001269607.1:p.Met487=
XM_005250433.3:c.336_341delinsGATAAA XP_005250490.1:p.Met112=
XR_242246.3:n.2181_2186delinsGATAAA
XM_017012319.2:c.336_341delinsGATAAA XP_016867808.1:p.Met112=
XR_001744808.2:n.1112_1117delinsGATAAA
XR_242246.5:n.2132_2137delinsGATAAA
NM_000466.3:c.2085_2090delinsGATAAA MANE Select NP_000457.1:p.Met695=
NM_001282677.2:c.1914_1919delinsGATAAA NP_001269606.1:p.Met638=
NM_001282678.2:c.1461_1466delinsGATAAA NP_001269607.1:p.Met487=