gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026492 (AFR)
Genomes Max Group AF
0.00022172 (AFR)
Exomes Max Group AF
0.00022952 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74111991_74111992del , CM000672.2:g.74111991_74111992del | GRCh38 |
| NC_000010.10:g.75871749_75871750del , CM000672.1:g.75871749_75871750del | GRCh37 |
| NC_000010.9:g.75541755_75541756del | NCBI36 |
| NG_008868.1:g.118878_118879del , LRG_383:g.118878_118879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.2828_2829del MANE Select | ENSP00000211998.5:p.Pro943ArgfsTer9 | |
| ENST00000211998.8:c.2828_2829del | ENSP00000211998.4:p.Pro943ArgfsTer9 | |
| ENST00000372755.7:c.2746-2193_2746-2192del | ENSP00000361841.3:n.2746-2193_2746-2192del | |
| ENST00000436396.1:c.1844_1845del | ENSP00000415489.1:p.Pro615ArgfsTer9 | |
| ENST00000623461.3:n.5549-2193_5549-2192del | ||
| ENST00000624354.3:c.*2583_*2584del | ENSP00000485551.1:n.*2583_*2584del | |
| NM_003373.3:c.2746-2193_2746-2192del | NP_003364.1:n.2746-2193_2746-2192del | |
| NM_014000.2:c.2828_2829del , LRG_383t1:c.2828_2829del | NP_054706.1:p.Pro943ArgfsTer9 | |
| XM_005270142.1:c.2831_2832del | XP_005270199.1:p.Pro944ArgfsTer9 | |
| XM_005270143.1:c.2749-2193_2749-2192del | XP_005270200.1:n.2749-2193_2749-2192del | |
| NM_003373.4:c.2746-2193_2746-2192del | NP_003364.1:n.2746-2193_2746-2192del | |
| NM_014000.3:c.2828_2829del MANE Select | NP_054706.1:p.Pro943ArgfsTer9 |