Linked Data
ClinVar Variation Id:
1262779
ClinVar RCV Id:
RCV001670012
dbSNP Id:
rs3217161
gnomAD v2:
7-92120993-AT-A
gnomAD v3:
7-92491679-AT-A
gnomAD v4:
7-92491679-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92491681del , CM000669.2:g.92491681del | GRCh38 |
| NC_000007.13:g.92120995del , CM000669.1:g.92120995del | GRCh37 |
| NC_000007.12:g.91958931del | NCBI36 |
| NG_008341.1:g.41852del | |
| NG_008341.2:g.41852del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3208-178del (PEX1) MANE Select | ENSP00000248633.4:n.3208-178del | |
| ENST00000248633.8:c.3208-178del (PEX1) | ENSP00000248633.4:n.3208-178del | |
| ENST00000428214.5:c.3037-178del (PEX1) | ENSP00000394413.1:n.3037-178del | |
| ENST00000438045.5:c.2242-178del (PEX1) | ENSP00000410438.1:n.2242-178del | |
| ENST00000484913.5:n.3247-178del (PEX1) | ||
| ENST00000496420.5:n.4263-178del (PEX1) | ||
| NM_000466.2:c.3208-178del (PEX1) | NP_000457.1:n.3208-178del | |
| NM_001282677.1:c.3037-178del (PEX1) | NP_001269606.1:n.3037-178del | |
| NM_001282678.1:c.2584-178del (PEX1) | NP_001269607.1:n.2584-178del | |
| XM_005250433.3:c.1459-178del (PEX1) | XP_005250490.1:n.1459-178del | |
| XR_242246.3:n.3304-178del (PEX1) | ||
| XM_017012319.2:c.1459-178del (PEX1) | XP_016867808.1:n.1459-178del | |
| XR_001744808.2:n.2235-178del (PEX1) | ||
| XR_001744842.2:n.2719del (GATAD1) | ||
| XR_001744843.2:n.2650del (GATAD1) | ||
| XR_002956472.1:n.2776del (GATAD1) | ||
| XR_002956473.1:n.2807del (GATAD1) | ||
| XR_002956474.1:n.2724del (GATAD1) | ||
| XR_242246.5:n.3255-178del (PEX1) | ||
| XR_927494.3:n.1501del (GATAD1) | ||
| XR_927500.3:n.1498del (GATAD1) | ||
| XR_927503.3:n.1432del (GATAD1) | ||
| NM_000466.3:c.3208-178del (PEX1) MANE Select | NP_000457.1:n.3208-178del | |
| NM_001282677.2:c.3037-178del (PEX1) | NP_001269606.1:n.3037-178del | |
| NM_001282678.2:c.2584-178del (PEX1) | NP_001269607.1:n.2584-178del |