Linked Data
ClinVar Variation Id:
689352
ClinVar RCV Id:
RCV000850048
dbSNP Id:
rs1257344396
gnomAD v3:
19-11120519-AC-A
gnomAD v4:
19-11120519-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120520del , CM000681.2:g.11120520del | GRCh38 |
| NC_000019.9:g.11231196del , CM000681.1:g.11231196del | GRCh37 |
| NC_000019.8:g.11092196del | NCBI36 |
| NG_009060.1:g.36140del , LRG_274:g.36140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2396del | ENSP00000252444.6:p.Thr799LysfsTer17 | |
| ENST00000559340.2:c.*207del | ENSP00000453696.2:n.*207del | |
| ENST00000560467.2:c.2018del | ENSP00000453513.2:p.Thr673LysfsTer17 | |
| ENST00000558518.6:c.2138del MANE Select | ENSP00000454071.1:p.Thr713LysfsTer17 | |
| ENST00000252444.9:c.2392del | ||
| ENST00000455727.6:c.1634del | ENSP00000397829.2:p.Thr545LysfsTer17 | |
| ENST00000535915.5:c.2015del | ENSP00000440520.1:p.Thr672LysfsTer17 | |
| ENST00000545707.5:c.1606+287del | ENSP00000437639.1:n.1606+287del | |
| ENST00000557933.5:c.2138del | ENSP00000453557.1:p.Thr713LysfsTer17 | |
| ENST00000558013.5:c.2138del | ENSP00000453346.1:p.Thr713LysfsTer17 | |
| ENST00000558518.5:c.2138del | ENSP00000454071.1:p.Thr713LysfsTer17 | |
| NM_000527.4:c.2138del , LRG_274t1:c.2138del | NP_000518.1:p.Thr713LysfsTer17 | |
| NM_001195798.1:c.2138del | NP_001182727.1:p.Thr713LysfsTer17 | |
| NM_001195799.1:c.2015del | NP_001182728.1:p.Thr672LysfsTer17 | |
| NM_001195800.1:c.1634del | NP_001182729.1:p.Thr545LysfsTer17 | |
| NM_001195803.1:c.1606+287del | NP_001182732.1:n.1606+287del | |
| XM_011528010.1:c.2138del | XP_011526312.1:p.Thr713LysfsTer17 | |
| XM_011528011.1:c.1757del | XP_011526313.1:p.Thr586LysfsTer17 | |
| XR_244074.2:n.2148del | ||
| XM_011528010.2:c.2138del | XP_011526312.1:p.Thr713LysfsTer17 | |
| XR_001753685.2:n.2255del | ||
| XR_001753686.2:n.2115del | ||
| NM_000527.5:c.2138del MANE Select | NP_000518.1:p.Thr713LysfsTer17 | |
| NM_001195798.2:c.2138del | NP_001182727.1:p.Thr713LysfsTer17 | |
| NM_001195799.2:c.2015del | NP_001182728.1:p.Thr672LysfsTer17 | |
| NM_001195800.2:c.1634del | NP_001182729.1:p.Thr545LysfsTer17 | |
| NM_001195803.2:c.1606+287del | NP_001182732.1:n.1606+287del |