Linked Data
ClinVar Variation Id:
362446
ClinVar RCV Id:
RCV000402498
dbSNP Id:
rs756539526
gnomAD v2:
8-19824383-TATTAA-T
gnomAD v3:
8-19966872-TATTAA-T
gnomAD v4:
8-19966872-TATTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966873_19966877del , CM000670.2:g.19966873_19966877del | GRCh38 |
| NC_000008.10:g.19824384_19824388del , CM000670.1:g.19824384_19824388del | GRCh37 |
| NC_000008.9:g.19868664_19868668del | NCBI36 |
| NG_008855.1:g.32803_32807del | |
| NG_008855.2:g.70157_70161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1563_*1567del MANE Select | ENSP00000497642.1:n.*1563_*1567del | |
| ENST00000650478.1:c.1931_1935del | ENSP00000497560.1:n.1931_1935del | |
| ENST00000311322.8:c.*1563_*1567del | ENSP00000309757.6:n.*1563_*1567del | |
| NM_000237.2:c.*1563_*1567del | NP_000228.1:n.*1563_*1567del | |
| NM_000237.3:c.*1563_*1567del MANE Select | NP_000228.1:n.*1563_*1567del |