ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489810dup , CM000669.2:g.92489810dup | GRCh38 |
| NC_000007.13:g.92119124dup , CM000669.1:g.92119124dup | GRCh37 |
| NC_000007.12:g.91957060dup | NCBI36 |
| NG_008341.1:g.43723dup | |
| NG_008341.2:g.43723dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3541dup (PEX1) MANE Select | ENSP00000248633.4:p.Ser1181PhefsTer? | |
| ENST00000248633.8:c.3541dup (PEX1) | ENSP00000248633.4:p.Ser1181PhefsTer? | |
| ENST00000428214.5:c.3370dup (PEX1) | ENSP00000394413.1:p.Ser1124PhefsTer? | |
| ENST00000438045.5:c.2575dup (PEX1) | ENSP00000410438.1:p.Ser859PhefsTer? | |
| ENST00000469417.1:n.438dup (PEX1) | ||
| ENST00000484913.5:n.3580dup (PEX1) | ||
| ENST00000496420.5:n.4596dup (PEX1) | ||
| NM_000466.2:c.3541dup (PEX1) | NP_000457.1:p.Ser1181PhefsTer? | |
| NM_001282677.1:c.3370dup (PEX1) | NP_001269606.1:p.Ser1124PhefsTer? | |
| NM_001282678.1:c.2917dup (PEX1) | NP_001269607.1:p.Ser973PhefsTer? | |
| XM_005250433.3:c.1792dup (PEX1) | XP_005250490.1:p.Ser598PhefsTer? | |
| XR_242246.3:n.3637dup (PEX1) | ||
| XR_927494.1:n.1036-1433dup (GATAD1) | ||
| XR_927495.1:n.1036-276dup (GATAD1) | ||
| XR_927496.1:n.1041-1433dup (GATAD1) | ||
| XR_927497.1:n.1036-276dup (GATAD1) | ||
| XR_927498.1:n.1124-1433dup (GATAD1) | ||
| XR_927500.1:n.1033-1433dup (GATAD1) | ||
| XR_927502.1:n.1033-276dup (GATAD1) | ||
| XR_927503.1:n.967-1433dup (GATAD1) | ||
| XM_017012319.2:c.1792dup (PEX1) | XP_016867808.1:p.Ser598PhefsTer? | |
| XR_001744808.2:n.2568dup (PEX1) | ||
| XR_001744842.2:n.2281-1433dup (GATAD1) | ||
| XR_001744843.2:n.2212-1433dup (GATAD1) | ||
| XR_002956472.1:n.2281-276dup (GATAD1) | ||
| XR_002956473.1:n.2369-1433dup (GATAD1) | ||
| XR_002956474.1:n.2286-1433dup (GATAD1) | ||
| XR_242246.5:n.3588dup (PEX1) | ||
| XR_927494.3:n.1063-1433dup (GATAD1) | ||
| XR_927500.3:n.1060-1433dup (GATAD1) | ||
| XR_927503.3:n.994-1433dup (GATAD1) | ||
| NM_000466.3:c.3541dup (PEX1) MANE Select | NP_000457.1:p.Ser1181PhefsTer? | |
| NM_001282677.2:c.3370dup (PEX1) | NP_001269606.1:p.Ser1124PhefsTer? | |
| NM_001282678.2:c.2917dup (PEX1) | NP_001269607.1:p.Ser973PhefsTer? |