gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00031319 (EAS)
Exomes Max Group AF
0.00035443 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70598630_70598631del , CM000672.2:g.70598630_70598631del | GRCh38 |
| NC_000010.10:g.72358386_72358387del , CM000672.1:g.72358386_72358387del | GRCh37 |
| NC_000010.9:g.72028392_72028393del | NCBI36 |
| NG_009615.1:g.9145_9146del , LRG_94:g.9145_9146del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697571.1:c.2419-258_2419-257del (PALD1) | ENSP00000513342.1:n.2419-258_2419-257del | |
| ENST00000697572.1:c.2250+34111_2250+34112del (PALD1) | ENSP00000513343.1:n.2250+34111_2250+34112del | |
| ENST00000697573.1:c.2263-258_2263-257del (PALD1) | ENSP00000513344.1:n.2263-258_2263-257del | |
| ENST00000697577.1:n.2723-258_2723-257del (PALD1) | ||
| ENST00000697578.1:n.2567-258_2567-257del (PALD1) | ||
| ENST00000441259.2:c.1090_1091del (PRF1) MANE Select | ENSP00000398568.1:p.Leu364GlufsTer? | |
| ENST00000638674.1:c.540-790_540-789del (PRF1) | ENSP00000492048.1:n.540-790_540-789del | |
| ENST00000639390.1:n.98-790_98-789del (PRF1) | ||
| ENST00000373209.2:c.1090_1091del (PRF1) | ENSP00000362305.1:p.Leu364GlufsTer? | |
| ENST00000441259.1:c.1090_1091del (PRF1) | ENSP00000398568.1:p.Leu364GlufsTer? | |
| NM_001083116.1:c.1090_1091del , LRG_94t1:c.1090_1091del (PRF1) | NP_001076585.1:p.Leu364GlufsTer? | |
| NM_005041.4:c.1090_1091del (PRF1) | NP_005032.2:p.Leu364GlufsTer? | |
| NM_001083116.2:c.1090_1091del (PRF1) | NP_001076585.1:p.Leu364GlufsTer? | |
| NM_005041.5:c.1090_1091del (PRF1) | NP_005032.2:p.Leu364GlufsTer? | |
| NM_001083116.3:c.1090_1091del (PRF1) MANE Select | NP_001076585.1:p.Leu364GlufsTer? | |
| NM_005041.6:c.1090_1091del (PRF1) | NP_005032.2:p.Leu364GlufsTer? |