Canonical Allele Identifier: CA2776945659
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496867_92496868insAG , CM000669.2:g.92496867_92496868insAG GRCh38
NC_000007.13:g.92126181_92126182insAG , CM000669.1:g.92126181_92126182insAG GRCh37
NC_000007.12:g.91964117_91964118insAG NCBI36
NG_008341.1:g.36664_36665insCT
NG_008341.2:g.36664_36665insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2719-91_2719-90insCT MANE Select ENSP00000248633.4:n.2719-91_2719-90insCT
ENST00000248633.8:c.2719-91_2719-90insCT ENSP00000248633.4:n.2719-91_2719-90insCT
ENST00000428214.5:c.2548-91_2548-90insCT ENSP00000394413.1:n.2548-91_2548-90insCT
ENST00000438045.5:c.1753-91_1753-90insCT ENSP00000410438.1:n.1753-91_1753-90insCT
ENST00000484913.5:n.2758-91_2758-90insCT
ENST00000496420.5:n.2611-91_2611-90insCT
NM_000466.2:c.2719-91_2719-90insCT NP_000457.1:n.2719-91_2719-90insCT
NM_001282677.1:c.2548-91_2548-90insCT NP_001269606.1:n.2548-91_2548-90insCT
NM_001282678.1:c.2095-91_2095-90insCT NP_001269607.1:n.2095-91_2095-90insCT
XM_005250433.3:c.970-91_970-90insCT XP_005250490.1:n.970-91_970-90insCT
XR_242246.3:n.2815-91_2815-90insCT
XM_017012319.2:c.970-91_970-90insCT XP_016867808.1:n.970-91_970-90insCT
XR_001744808.2:n.1746-91_1746-90insCT
XR_242246.5:n.2766-91_2766-90insCT
NM_000466.3:c.2719-91_2719-90insCT MANE Select NP_000457.1:n.2719-91_2719-90insCT
NM_001282677.2:c.2548-91_2548-90insCT NP_001269606.1:n.2548-91_2548-90insCT
NM_001282678.2:c.2095-91_2095-90insCT NP_001269607.1:n.2095-91_2095-90insCT