Linked Data
ClinVar Variation Id:
371774
dbSNP Id:
rs759183382
ExAC:
7:92119207 CAG / C
gnomAD v2:
7-92119207-CAG-C
gnomAD v3:
7-92489893-CAG-C
gnomAD v4:
7-92489893-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489899_92489900del , CM000669.2:g.92489899_92489900del | GRCh38 |
| NC_000007.13:g.92119213_92119214del , CM000669.1:g.92119213_92119214del | GRCh37 |
| NC_000007.12:g.91957149_91957150del | NCBI36 |
| NG_008341.1:g.43637_43638del | |
| NG_008341.2:g.43637_43638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3455_3456del (PEX1) MANE Select | ENSP00000248633.4:p.Ser1152CysfsTer? | |
| ENST00000248633.8:c.3455_3456del (PEX1) | ENSP00000248633.4:p.Ser1152CysfsTer? | |
| ENST00000428214.5:c.3284_3285del (PEX1) | ENSP00000394413.1:p.Ser1095CysfsTer? | |
| ENST00000438045.5:c.2489_2490del (PEX1) | ENSP00000410438.1:p.Ser830CysfsTer? | |
| ENST00000469417.1:n.352_353del (PEX1) | ||
| ENST00000484913.5:n.3494_3495del (PEX1) | ||
| ENST00000496420.5:n.4510_4511del (PEX1) | ||
| NM_000466.2:c.3455_3456del (PEX1) | NP_000457.1:p.Ser1152CysfsTer? | |
| NM_001282677.1:c.3284_3285del (PEX1) | NP_001269606.1:p.Ser1095CysfsTer? | |
| NM_001282678.1:c.2831_2832del (PEX1) | NP_001269607.1:p.Ser944CysfsTer? | |
| XM_005250433.3:c.1706_1707del (PEX1) | XP_005250490.1:p.Ser569CysfsTer? | |
| XR_242246.3:n.3551_3552del (PEX1) | ||
| XR_927494.1:n.1036-1344_1036-1343del (GATAD1) | ||
| XR_927495.1:n.1036-187_1036-186del (GATAD1) | ||
| XR_927496.1:n.1041-1344_1041-1343del (GATAD1) | ||
| XR_927497.1:n.1036-187_1036-186del (GATAD1) | ||
| XR_927498.1:n.1124-1344_1124-1343del (GATAD1) | ||
| XR_927500.1:n.1033-1344_1033-1343del (GATAD1) | ||
| XR_927502.1:n.1033-187_1033-186del (GATAD1) | ||
| XR_927503.1:n.967-1344_967-1343del (GATAD1) | ||
| XM_017012319.2:c.1706_1707del (PEX1) | XP_016867808.1:p.Ser569CysfsTer? | |
| XR_001744808.2:n.2482_2483del (PEX1) | ||
| XR_001744842.2:n.2281-1344_2281-1343del (GATAD1) | ||
| XR_001744843.2:n.2212-1344_2212-1343del (GATAD1) | ||
| XR_002956472.1:n.2281-187_2281-186del (GATAD1) | ||
| XR_002956473.1:n.2369-1344_2369-1343del (GATAD1) | ||
| XR_002956474.1:n.2286-1344_2286-1343del (GATAD1) | ||
| XR_242246.5:n.3502_3503del (PEX1) | ||
| XR_927494.3:n.1063-1344_1063-1343del (GATAD1) | ||
| XR_927500.3:n.1060-1344_1060-1343del (GATAD1) | ||
| XR_927503.3:n.994-1344_994-1343del (GATAD1) | ||
| NM_000466.3:c.3455_3456del (PEX1) MANE Select | NP_000457.1:p.Ser1152CysfsTer? | |
| NM_001282677.2:c.3284_3285del (PEX1) | NP_001269606.1:p.Ser1095CysfsTer? | |
| NM_001282678.2:c.2831_2832del (PEX1) | NP_001269607.1:p.Ser944CysfsTer? |