Linked Data
ClinVar Variation Id:
252255
ClinVar RCV Id:
RCV000237436
dbSNP Id:
rs879255163
PubMed:
PMID:9767370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123234_11123235del , CM000681.2:g.11123234_11123235del | GRCh38 |
| NC_000019.9:g.11233910_11233911del , CM000681.1:g.11233910_11233911del | GRCh37 |
| NC_000019.8:g.11094910_11094911del | NCBI36 |
| NG_009060.1:g.38854_38855del , LRG_274:g.38854_38855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2459_2460del | ENSP00000252444.6:p.Thr820SerfsTer? | |
| ENST00000559340.2:c.*270_*271del | ENSP00000453696.2:n.*270_*271del | |
| ENST00000560467.2:c.2081_2082del | ENSP00000453513.2:p.Thr694SerfsTer? | |
| ENST00000558518.6:c.2201_2202del MANE Select | ENSP00000454071.1:p.Thr734SerfsTer? | |
| ENST00000252444.9:c.2455_2456del | ||
| ENST00000455727.6:c.1697_1698del | ENSP00000397829.2:p.Thr566SerfsTer? | |
| ENST00000535915.5:c.2078_2079del | ENSP00000440520.1:p.Thr693SerfsTer? | |
| ENST00000545707.5:c.1667_1668del | ENSP00000437639.1:p.Thr556SerfsTer? | |
| ENST00000557933.5:c.2201_2202del | ENSP00000453557.1:p.Thr734SerfsTer? | |
| ENST00000558013.5:c.2201_2202del | ENSP00000453346.1:p.Thr734SerfsTer? | |
| ENST00000558518.5:c.2201_2202del | ENSP00000454071.1:p.Thr734SerfsTer? | |
| NM_000527.4:c.2201_2202del , LRG_274t1:c.2201_2202del | NP_000518.1:p.Thr734SerfsTer? | |
| NM_001195798.1:c.2201_2202del | NP_001182727.1:p.Thr734SerfsTer? | |
| NM_001195799.1:c.2078_2079del | NP_001182728.1:p.Thr693SerfsTer? | |
| NM_001195800.1:c.1697_1698del | NP_001182729.1:p.Thr566SerfsTer? | |
| NM_001195803.1:c.1667_1668del | NP_001182732.1:p.Thr556SerfsTer? | |
| XM_011528010.1:c.2201_2202del | XP_011526312.1:p.Thr734SerfsTer? | |
| XM_011528011.1:c.1820_1821del | XP_011526313.1:p.Thr607SerfsTer? | |
| XR_244074.2:n.2211_2212del | ||
| XM_011528010.2:c.2201_2202del | XP_011526312.1:p.Thr734SerfsTer? | |
| XR_001753685.2:n.2535_2536del | ||
| XR_001753686.2:n.2178_2179del | ||
| NM_000527.5:c.2201_2202del MANE Select | NP_000518.1:p.Thr734SerfsTer? | |
| NM_001195798.2:c.2201_2202del | NP_001182727.1:p.Thr734SerfsTer? | |
| NM_001195799.2:c.2078_2079del | NP_001182728.1:p.Thr693SerfsTer? | |
| NM_001195800.2:c.1697_1698del | NP_001182729.1:p.Thr566SerfsTer? | |
| NM_001195803.2:c.1667_1668del | NP_001182732.1:p.Thr556SerfsTer? |