gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011549 (SAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.00009616 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854907_102854908dup , CM000674.2:g.102854907_102854908dup | GRCh38 |
| NC_000012.11:g.103248685_103248686dup , CM000674.1:g.103248685_103248686dup | GRCh37 |
| NC_000012.10:g.101772815_101772816dup | NCBI36 |
| NG_008690.1:g.67695_67696dup | |
| NG_008690.2:g.108503_108504dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+228_706+229dup MANE Select | ENSP00000448059.1:n.706+228_706+229dup | |
| ENST00000307000.7:c.691+228_691+229dup | ENSP00000303500.2:n.691+228_691+229dup | |
| ENST00000549111.5:n.1030_1031dup | ||
| ENST00000553106.5:c.706+228_706+229dup | ENSP00000448059.1:n.706+228_706+229dup | |
| NM_000277.1:c.706+228_706+229dup | NP_000268.1:n.706+228_706+229dup | |
| XM_011538422.1:c.706+228_706+229dup | XP_011536724.1:n.706+228_706+229dup | |
| NM_000277.2:c.706+228_706+229dup | NP_000268.1:n.706+228_706+229dup | |
| NM_001354304.1:c.706+228_706+229dup | NP_001341233.1:n.706+228_706+229dup | |
| XM_017019370.2:c.707-107_707-106dup | XP_016874859.1:n.707-107_707-106dup | |
| NM_000277.3:c.706+228_706+229dup MANE Select | NP_000268.1:n.706+228_706+229dup | |
| NM_001354304.2:c.706+228_706+229dup | NP_001341233.1:n.706+228_706+229dup |