Linked Data
ClinVar Variation Id:
338902
ClinVar RCV Id:
RCV000279523
dbSNP Id:
rs201179319
gnomAD v2:
20-56141207-GTA-G
gnomAD v3:
20-57566151-GTA-G
gnomAD v4:
20-57566151-GTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57566161_57566162del , CM000682.2:g.57566161_57566162del | GRCh38 |
| NC_000020.10:g.56141217_56141218del , CM000682.1:g.56141217_56141218del | GRCh37 |
| NC_000020.9:g.55574623_55574624del | NCBI36 |
| NG_008205.1:g.10081_10082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.*357_*358del MANE Select | ENSP00000319814.4:n.*357_*358del | |
| ENST00000319441.5:c.*357_*358del | ENSP00000319814.4:n.*357_*358del | |
| ENST00000467047.1:n.4868_4869del | ||
| NM_002591.3:c.*357_*358del | NP_002582.3:n.*357_*358del | |
| XM_011528839.1:c.*357_*358del | XP_011527141.1:n.*357_*358del | |
| XM_024451888.1:c.*357_*358del | XP_024307656.1:n.*357_*358del | |
| NM_002591.4:c.*357_*358del MANE Select | NP_002582.3:n.*357_*358del |