MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128332271_128332273del , CM000671.2:g.128332271_128332273del | GRCh38 |
| NC_000009.11:g.131094550_131094552del , CM000671.1:g.131094550_131094552del | GRCh37 |
| NC_000009.10:g.130134371_130134373del | NCBI36 |
| NG_042101.1:g.14764_14766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.521_523del MANE Select | ENSP00000300452.3:p.Thr174del | |
| ENST00000300452.7:c.521_523del | ENSP00000300452.3:p.Thr174del | |
| ENST00000461102.1:n.1860_1862del | ||
| NM_001305942.1:c.*3-1203_*3-1201del | NP_001292871.1:n.*3-1203_*3-1201del | |
| NM_016035.3:c.521_523del | NP_057119.2:p.Thr174del | |
| NM_016035.4:c.521_523del | NP_057119.2:p.Thr174del | |
| XR_929805.1:n.749-579_749-577del | ||
| XM_017014792.1:c.*3-579_*3-577del | XP_016870281.1:n.*3-579_*3-577del | |
| XR_001746316.2:n.774_776del | ||
| XR_929805.3:n.749-579_749-577del | ||
| NM_016035.5:c.521_523del MANE Select | NP_057119.3:p.Thr174del | |
| NM_001305942.2:c.*3-1203_*3-1201del | NP_001292871.2:n.*3-1203_*3-1201del |