gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31068140_31068143dup , CM000680.2:g.31068140_31068143dup | GRCh38 |
| NC_000018.9:g.28648106_28648109dup , CM000680.1:g.28648106_28648109dup | GRCh37 |
| NC_000018.8:g.26902104_26902107dup | NCBI36 |
| NG_008208.2:g.39287_39290dup , LRG_400:g.39287_39290dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.2153_2156dup | ENSP00000507826.1:p.Gly720LysfsTer13 | |
| ENST00000251081.8:c.*84_*87dup | ENSP00000251081.6:n.*84_*87dup | |
| ENST00000280904.11:c.2582_2585dup MANE Select | ENSP00000280904.6:p.Gly863LysfsTer13 | |
| ENST00000648081.1:c.2153_2156dup | ENSP00000497441.1:p.Gly720LysfsTer13 | |
| ENST00000251081.6:c.*84_*87dup | ENSP00000251081.6:n.*84_*87dup | |
| ENST00000280904.10:c.2582_2585dup | ENSP00000280904.6:p.Gly863LysfsTer13 | |
| NM_004949.4:c.*84_*87dup | NP_004940.1:n.*84_*87dup | |
| NM_024422.4:c.2582_2585dup | NP_077740.1:p.Gly863LysfsTer13 | |
| XM_005258206.3:c.2153_2156dup | XP_005258263.1:p.Gly720LysfsTer13 | |
| XM_005258206.4:c.2153_2156dup | XP_005258263.1:p.Gly720LysfsTer13 | |
| NM_004949.5:c.*84_*87dup | NP_004940.1:n.*84_*87dup | |
| NM_024422.6:c.2582_2585dup MANE Select | NP_077740.1:p.Gly863LysfsTer13 |