Linked Data
ClinVar Variation Id:
923754
ClinVar RCV Id:
RCV001184678
dbSNP Id:
rs2077535269
gnomAD v4:
19-11120505-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120509_11120511del , CM000681.2:g.11120509_11120511del | GRCh38 |
| NC_000019.9:g.11231185_11231187del , CM000681.1:g.11231185_11231187del | GRCh37 |
| NC_000019.8:g.11092185_11092187del | NCBI36 |
| NG_009060.1:g.36129_36131del , LRG_274:g.36129_36131del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2385_2387del | ENSP00000252444.6:p.Arg795del | |
| ENST00000559340.2:c.*196_*198del | ENSP00000453696.2:n.*196_*198del | |
| ENST00000560467.2:c.2007_2009del | ENSP00000453513.2:p.Arg669del | |
| ENST00000558518.6:c.2127_2129del MANE Select | ENSP00000454071.1:p.Arg709del | |
| ENST00000252444.9:c.2381_2383del | ||
| ENST00000455727.6:c.1623_1625del | ENSP00000397829.2:p.Arg541del | |
| ENST00000535915.5:c.2004_2006del | ENSP00000440520.1:p.Arg668del | |
| ENST00000545707.5:c.1606+276_1606+278del | ENSP00000437639.1:n.1606+276_1606+278del | |
| ENST00000557933.5:c.2127_2129del | ENSP00000453557.1:p.Arg709del | |
| ENST00000558013.5:c.2127_2129del | ENSP00000453346.1:p.Arg709del | |
| ENST00000558518.5:c.2127_2129del | ENSP00000454071.1:p.Arg709del | |
| NM_000527.4:c.2127_2129del , LRG_274t1:c.2127_2129del | NP_000518.1:p.Arg709del | |
| NM_001195798.1:c.2127_2129del | NP_001182727.1:p.Arg709del | |
| NM_001195799.1:c.2004_2006del | NP_001182728.1:p.Arg668del | |
| NM_001195800.1:c.1623_1625del | NP_001182729.1:p.Arg541del | |
| NM_001195803.1:c.1606+276_1606+278del | NP_001182732.1:n.1606+276_1606+278del | |
| XM_011528010.1:c.2127_2129del | XP_011526312.1:p.Arg709del | |
| XM_011528011.1:c.1746_1748del | XP_011526313.1:p.Arg582del | |
| XR_244074.2:n.2137_2139del | ||
| XM_011528010.2:c.2127_2129del | XP_011526312.1:p.Arg709del | |
| XR_001753685.2:n.2244_2246del | ||
| XR_001753686.2:n.2104_2106del | ||
| NM_000527.5:c.2127_2129del MANE Select | NP_000518.1:p.Arg709del | |
| NM_001195798.2:c.2127_2129del | NP_001182727.1:p.Arg709del | |
| NM_001195799.2:c.2004_2006del | NP_001182728.1:p.Arg668del | |
| NM_001195800.2:c.1623_1625del | NP_001182729.1:p.Arg541del | |
| NM_001195803.2:c.1606+276_1606+278del | NP_001182732.1:n.1606+276_1606+278del |