Linked Data
dbSNP Id:
rs1296952332
gnomAD v2:
3-150644010-CT-C
gnomAD v3:
3-150926223-CT-C
gnomAD v4:
3-150926223-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926224del , CM000665.2:g.150926224del | GRCh38 |
| NC_000003.11:g.150644011del , CM000665.1:g.150644011del | GRCh37 |
| NC_000003.10:g.152126701del | NCBI36 |
| NG_009168.1:g.51776del , LRG_700:g.51776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295911.6:c.*628del | ENSP00000295911.2:n.*628del | |
| ENST00000562308.5:c.104+15358del | ||
| ENST00000565169.1:c.162+15358del | ||
| ENST00000569170.5:c.162+15358del | ||
| NM_052995.2:c.*628del , LRG_700t2:c.*628del | NP_443721.1:n.*628del | |
| XR_924167.1:n.2723del |