ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814065_129814067del , CM000671.2:g.129814065_129814067del | GRCh38 |
| NC_000009.11:g.132576344_132576346del , CM000671.1:g.132576344_132576346del | GRCh37 |
| NC_000009.10:g.131616165_131616167del | NCBI36 |
| NG_008049.1:g.15099_15101del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.907_909del MANE Select | ENSP00000345719.4:p.Glu303del | |
| ENST00000651202.1:c.*175_*177del | ENSP00000498222.1:n.*175_*177del | |
| ENST00000351698.4:c.907_909del | ENSP00000345719.4:p.Glu303del | |
| ENST00000474192.1:n.491_493del | ||
| NM_000113.2:c.907_909del | NP_000104.1:p.Glu303del | |
| XR_929731.1:n.1234_1236del | ||
| XR_929731.3:n.1102_1104del | ||
| NM_000113.3:c.907_909del MANE Select | NP_000104.1:p.Glu303del |