Linked Data
ClinVar Variation Id:
357298
ClinVar RCV Id:
RCV000326337
dbSNP Id:
rs35732696
gnomAD v2:
6-50812003-TA-T
gnomAD v3:
6-50844290-TA-T
gnomAD v4:
6-50844290-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50844303del , CM000668.2:g.50844303del | GRCh38 |
| NC_000006.11:g.50812016del , CM000668.1:g.50812016del | GRCh37 |
| NC_000006.10:g.50919975del | NCBI36 |
| NG_008438.1:g.30578del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393655.4:c.*911del MANE Select | ENSP00000377265.2:n.*911del | |
| ENST00000393655.3:c.*911del | ENSP00000377265.2:n.*911del | |
| NM_003221.3:c.*911del | NP_003212.2:n.*911del | |
| XM_006715176.2:c.1343-89del | XP_006715239.1:n.1343-89del | |
| XM_006715177.2:c.1289-89del | XP_006715240.1:n.1289-89del | |
| XM_011514834.1:c.1370-89del | XP_011513136.1:n.1370-89del | |
| XM_011514835.1:c.1370-89del | XP_011513137.1:n.1370-89del | |
| XM_011514836.1:c.1370-89del | XP_011513138.1:n.1370-89del | |
| XM_011514837.1:c.*911del | XP_011513139.1:n.*911del | |
| XM_011514837.2:c.*911del | XP_011513139.1:n.*911del | |
| XM_017011233.1:c.*911del | XP_016866722.1:n.*911del | |
| XM_017011234.1:c.*911del | XP_016866723.1:n.*911del | |
| XM_017011235.2:c.*911del | XP_016866724.1:n.*911del | |
| NM_003221.4:c.*911del MANE Select | NP_003212.2:n.*911del |