gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027244_149027245del , CM000667.2:g.149027244_149027245del | GRCh38 |
| NC_000005.9:g.148406807_148406808del , CM000667.1:g.148406807_148406808del | GRCh37 |
| NC_000005.8:g.148387000_148387001del | NCBI36 |
| NG_007947.2:g.40934_40935del , LRG_269:g.40934_40935del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2387_2388del | ||
| ENST00000515425.6:c.2491_2492del MANE Select | ENSP00000423660.1:p.Leu832HisfsTer8 | |
| ENST00000675793.1:c.*1775_*1776del | ENSP00000502039.1:n.*1775_*1776del | |
| ENST00000676056.1:c.*2001_*2002del | ENSP00000501827.1:n.*2001_*2002del | |
| ENST00000323829.9:c.*1879_*1880del | ENSP00000313025.5:n.*1879_*1880del | |
| ENST00000504517.5:c.2021_2022del | ENSP00000421779.1:n.2021_2022del | |
| ENST00000504690.5:c.2491_2492del | ENSP00000425627.1:p.Leu832HisfsTer8 | |
| ENST00000510779.1:c.1541_1542del | ||
| ENST00000511307.5:c.*2271_*2272del | ENSP00000421420.1:n.*2271_*2272del | |
| ENST00000512049.5:c.2470_2471del | ENSP00000421860.1:p.Leu825HisfsTer8 | |
| ENST00000513604.5:c.*1879_*1880del | ENSP00000423111.1:n.*1879_*1880del | |
| ENST00000515425.5:c.2491_2492del | ENSP00000423660.1:p.Leu832HisfsTer8 | |
| NM_024577.3:c.2491_2492del , LRG_269t1:c.2491_2492del | NP_078853.2:p.Leu832HisfsTer8 | |
| NM_024577.4:c.2491_2492del MANE Select | NP_078853.2:p.Leu832HisfsTer8 |