Canonical Allele Identifier: CA1725938794
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504763_92504764delinsAG , CM000669.2:g.92504763_92504764delinsAG GRCh38
NC_000007.13:g.92134077_92134078delinsAG , CM000669.1:g.92134077_92134078delinsAG GRCh37
NC_000007.12:g.91972013_91972014delinsAG NCBI36
NG_008341.1:g.28768_28769delinsCT
NG_008341.2:g.28768_28769delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2039_2040delinsCT MANE Select ENSP00000248633.4:p.Pro680=
ENST00000248633.8:c.2039_2040delinsCT ENSP00000248633.4:p.Pro680=
ENST00000428214.5:c.1900+1484_1900+1485delinsCT ENSP00000394413.1:n.1900+1484_1900+1485de...
ENST00000438045.5:c.1073_1074delinsCT ENSP00000410438.1:p.Pro358=
ENST00000484913.5:n.2078_2079delinsCT
ENST00000496420.5:n.1715_1716delinsCT
NM_000466.2:c.2039_2040delinsCT NP_000457.1:p.Pro680=
NM_001282677.1:c.1900+1484_1900+1485delinsCT NP_001269606.1:n.1900+1484_1900+1485delin...
NM_001282678.1:c.1415_1416delinsCT NP_001269607.1:p.Pro472=
XM_005250433.3:c.290_291delinsCT XP_005250490.1:p.Pro97=
XR_242246.3:n.2135_2136delinsCT
XM_017012319.2:c.290_291delinsCT XP_016867808.1:p.Pro97=
XR_001744808.2:n.1066_1067delinsCT
XR_242246.5:n.2086_2087delinsCT
NM_000466.3:c.2039_2040delinsCT MANE Select NP_000457.1:p.Pro680=
NM_001282677.2:c.1900+1484_1900+1485delinsCT NP_001269606.1:n.1900+1484_1900+1485delin...
NM_001282678.2:c.1415_1416delinsCT NP_001269607.1:p.Pro472=