Linked Data
ClinVar Variation Id:
308000
dbSNP Id:
rs537907545
ExAC:
12:21715978 AC / A
gnomAD v2:
12-21715978-AC-A
gnomAD v3:
12-21563044-AC-A
gnomAD v4:
12-21563044-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21563045del , CM000674.2:g.21563045del | GRCh38 |
| NC_000012.11:g.21715979del , CM000674.1:g.21715979del | GRCh37 |
| NC_000012.10:g.21607246del | NCBI36 |
| NG_016167.1:g.46803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.942-7del MANE Select | ENSP00000261195.2:n.942-7del | |
| ENST00000647960.1:c.*944-7del | ENSP00000497202.1:n.*944-7del | |
| ENST00000648372.1:n.869-7del | ||
| ENST00000261195.2:c.942-7del | ENSP00000261195.2:n.942-7del | |
| NM_021957.3:c.942-7del | NP_068776.2:n.942-7del | |
| XM_005253352.1:c.942-7del | XP_005253409.1:n.942-7del | |
| XM_005253354.2:c.723-7del | XP_005253411.1:n.723-7del | |
| XM_006719062.2:c.942-7del | XP_006719125.1:n.942-7del | |
| XM_006719063.2:c.711-7del | XP_006719126.1:n.711-7del | |
| NM_021957.4:c.942-7del MANE Select | NP_068776.2:n.942-7del | |
| XM_006719063.3:c.711-7del | XP_006719126.1:n.711-7del | |
| XM_017019245.2:c.942-7del | XP_016874734.1:n.942-7del | |
| XM_024448960.1:c.942-7del | XP_024304728.1:n.942-7del |