Linked Data
ClinVar Variation Id:
2773530
ClinVar RCV Id:
RCV003582129
dbSNP Id:
rs1373885362
gnomAD v2:
19-11240333-ACAG-A
gnomAD v4:
19-11129657-ACAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129659_11129661del , CM000681.2:g.11129659_11129661del | GRCh38 |
| NC_000019.9:g.11240335_11240337del , CM000681.1:g.11240335_11240337del | GRCh37 |
| NC_000019.8:g.11101335_11101337del | NCBI36 |
| NG_009060.1:g.45279_45281del , LRG_274:g.45279_45281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2794_2796del | ENSP00000252444.6:p.Ser932del | |
| ENST00000559340.2:c.*605_*607del | ENSP00000453696.2:n.*605_*607del | |
| ENST00000560467.2:c.2416_2418del | ENSP00000453513.2:p.Ser806del | |
| ENST00000558518.6:c.2536_2538del MANE Select | ENSP00000454071.1:p.Ser846del | |
| ENST00000252444.9:c.2790_2792del | ||
| ENST00000455727.6:c.2032_2034del | ENSP00000397829.2:p.Ser678del | |
| ENST00000535915.5:c.2413_2415del | ENSP00000440520.1:p.Ser805del | |
| ENST00000545707.5:c.2002_2004del | ENSP00000437639.1:p.Ser668del | |
| ENST00000557933.5:c.2598_2600del | ENSP00000453557.1:p.Ala867del | |
| ENST00000558013.5:c.2536_2538del | ENSP00000453346.1:p.Ser846del | |
| ENST00000558518.5:c.2536_2538del | ENSP00000454071.1:p.Ser846del | |
| ENST00000560628.1:n.108+2005_108+2007del | ||
| NM_000527.4:c.2536_2538del , LRG_274t1:c.2536_2538del | NP_000518.1:p.Ser846del | |
| NM_001195798.1:c.2536_2538del | NP_001182727.1:p.Ser846del | |
| NM_001195799.1:c.2413_2415del | NP_001182728.1:p.Ser805del | |
| NM_001195800.1:c.2032_2034del | NP_001182729.1:p.Ser678del | |
| NM_001195803.1:c.2002_2004del | NP_001182732.1:p.Ser668del | |
| XM_011528010.1:c.2458_2460del | XP_011526312.1:p.Ser820del | |
| XM_011528011.1:c.2155_2157del | XP_011526313.1:p.Ser719del | |
| XM_011528010.2:c.2458_2460del | XP_011526312.1:p.Ser820del | |
| XR_001753685.2:n.2870_2872del | ||
| XR_001753686.2:n.2513_2515del | ||
| NM_000527.5:c.2536_2538del MANE Select | NP_000518.1:p.Ser846del | |
| NM_001195798.2:c.2536_2538del | NP_001182727.1:p.Ser846del | |
| NM_001195799.2:c.2413_2415del | NP_001182728.1:p.Ser805del | |
| NM_001195800.2:c.2032_2034del | NP_001182729.1:p.Ser678del | |
| NM_001195803.2:c.2002_2004del | NP_001182732.1:p.Ser668del |