Linked Data
ClinVar Variation Id:
1624473
ClinVar RCV Id:
RCV002114036
dbSNP Id:
rs779130824
ExAC:
8:30977743 TG / T
gnomAD v2:
8-30977743-TG-T
gnomAD v3:
8-31120227-TG-T
gnomAD v4:
8-31120227-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31120228del , CM000670.2:g.31120228del | GRCh38 |
| NC_000008.10:g.30977744del , CM000670.1:g.30977744del | GRCh37 |
| NC_000008.9:g.31097286del | NCBI36 |
| NG_008870.1:g.91967del , LRG_524:g.91967del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.2449-15del MANE Select | ENSP00000298139.5:n.2449-15del | |
| ENST00000650667.1:c.*2063-15del | ENSP00000498593.1:n.*2063-15del | |
| ENST00000298139.5:c.2449-15del | ENSP00000298139.5:n.2449-15del | |
| ENST00000520169.1:n.273del | ||
| ENST00000521620.5:n.1082-15del | ||
| NM_000553.4:c.2449-15del , LRG_524t1:c.2449-15del | NP_000544.2:n.2449-15del | |
| XM_011544639.1:c.2368-15del | XP_011542941.1:n.2368-15del | |
| XM_011544640.1:c.850-15del | XP_011542942.1:n.850-15del | |
| XR_949470.1:n.2722-15del | ||
| XR_949471.1:n.2722-15del | ||
| XR_949472.1:n.2722-15del | ||
| NM_000553.5:c.2449-15del | NP_000544.2:n.2449-15del | |
| XM_011544639.3:c.2368-15del | XP_011542941.1:n.2368-15del | |
| XM_024447265.1:c.2239-15del | XP_024303033.1:n.2239-15del | |
| XR_949470.3:n.2750-15del | ||
| XR_949471.3:n.2750-15del | ||
| XR_949472.3:n.2750-15del | ||
| NM_000553.6:c.2449-15del MANE Select | NP_000544.2:n.2449-15del |