Linked Data
ClinVar Variation Id:
252196
ClinVar RCV Id:
RCV000237140
dbSNP Id:
rs879255123
PubMed:
PMID:11737238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120437_11120449del , CM000681.2:g.11120437_11120449del | GRCh38 |
| NC_000019.9:g.11231113_11231125del , CM000681.1:g.11231113_11231125del | GRCh37 |
| NC_000019.8:g.11092113_11092125del | NCBI36 |
| NG_009060.1:g.36057_36069del , LRG_274:g.36057_36069del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2313_2325del | ENSP00000252444.6:p.Gln772ThrfsTer19 | |
| ENST00000559340.2:c.*124_*136del | ENSP00000453696.2:n.*124_*136del | |
| ENST00000560467.2:c.1935_1947del | ENSP00000453513.2:p.Gln646ThrfsTer19 | |
| ENST00000558518.6:c.2055_2067del MANE Select | ENSP00000454071.1:p.Gln686ThrfsTer19 | |
| ENST00000252444.9:c.2309_2321del | ||
| ENST00000455727.6:c.1551_1563del | ENSP00000397829.2:p.Gln518ThrfsTer19 | |
| ENST00000535915.5:c.1932_1944del | ENSP00000440520.1:p.Gln645ThrfsTer19 | |
| ENST00000545707.5:c.1606+204_1606+216del | ENSP00000437639.1:n.1606+204_1606+216del | |
| ENST00000557933.5:c.2055_2067del | ENSP00000453557.1:p.Gln686ThrfsTer19 | |
| ENST00000558013.5:c.2055_2067del | ENSP00000453346.1:p.Gln686ThrfsTer19 | |
| ENST00000558518.5:c.2055_2067del | ENSP00000454071.1:p.Gln686ThrfsTer19 | |
| NM_000527.4:c.2055_2067del , LRG_274t1:c.2055_2067del | NP_000518.1:p.Gln686ThrfsTer19 | |
| NM_001195798.1:c.2055_2067del | NP_001182727.1:p.Gln686ThrfsTer19 | |
| NM_001195799.1:c.1932_1944del | NP_001182728.1:p.Gln645ThrfsTer19 | |
| NM_001195800.1:c.1551_1563del | NP_001182729.1:p.Gln518ThrfsTer19 | |
| NM_001195803.1:c.1606+204_1606+216del | NP_001182732.1:n.1606+204_1606+216del | |
| XM_011528010.1:c.2055_2067del | XP_011526312.1:p.Gln686ThrfsTer19 | |
| XM_011528011.1:c.1674_1686del | XP_011526313.1:p.Gln559ThrfsTer19 | |
| XR_244074.2:n.2065_2077del | ||
| XM_011528010.2:c.2055_2067del | XP_011526312.1:p.Gln686ThrfsTer19 | |
| XR_001753685.2:n.2172_2184del | ||
| XR_001753686.2:n.2032_2044del | ||
| NM_000527.5:c.2055_2067del MANE Select | NP_000518.1:p.Gln686ThrfsTer19 | |
| NM_001195798.2:c.2055_2067del | NP_001182727.1:p.Gln686ThrfsTer19 | |
| NM_001195799.2:c.1932_1944del | NP_001182728.1:p.Gln645ThrfsTer19 | |
| NM_001195800.2:c.1551_1563del | NP_001182729.1:p.Gln518ThrfsTer19 | |
| NM_001195803.2:c.1606+204_1606+216del | NP_001182732.1:n.1606+204_1606+216del |