Linked Data
ClinVar Variation Id:
226316
dbSNP Id:
rs875989896
gnomAD v4:
19-11102785-TCG-T
PubMed:
PMID:1301956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102786_11102787del , CM000681.2:g.11102786_11102787del | GRCh38 |
| NC_000019.9:g.11213462_11213463del , CM000681.1:g.11213462_11213463del | GRCh37 |
| NC_000019.8:g.11074462_11074463del | NCBI36 |
| NG_009060.1:g.18406_18407del , LRG_274:g.18406_18407del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.571_571+1del | ||
| ENST00000559340.2:c.313_313+1del | ||
| ENST00000560467.2:c.313_313+1del | ||
| ENST00000558518.6:c.313_313+1del | ||
| ENST00000252444.9:c.567_567+1del | ||
| ENST00000455727.6:c.313_313+1del | ||
| ENST00000535915.5:c.191-2434_191-2433del | ENSP00000440520.1:n.191-2434_191-2433del | |
| ENST00000545707.5:c.313_313+1del | ||
| ENST00000557933.5:c.313_313+1del | ||
| ENST00000557958.1:n.399_400del | ||
| ENST00000558013.5:c.313_313+1del | ||
| ENST00000558518.5:c.313_313+1del | ||
| NM_000527.4:c.313_313+1del , LRG_274t1:c.313_313+1del | ||
| NM_001195798.1:c.313_313+1del | ||
| NM_001195799.1:c.191-2434_191-2433del | NP_001182728.1:n.191-2434_191-2433del | |
| NM_001195800.1:c.313_313+1del | ||
| NM_001195803.1:c.313_313+1del | ||
| XM_011528010.1:c.313_313+1del | ||
| XM_011528011.1:c.313_313+1del | ||
| XR_244074.2:n.463_463+1del | ||
| XM_011528010.2:c.313_313+1del | ||
| XR_001753685.2:n.430_430+1del | ||
| XR_001753686.2:n.430_430+1del | ||
| NM_000527.5:c.313_313+1del | ||
| NM_001195798.2:c.313_313+1del | ||
| NM_001195799.2:c.191-2434_191-2433del | NP_001182728.1:n.191-2434_191-2433del | |
| NM_001195800.2:c.313_313+1del | ||
| NM_001195803.2:c.313_313+1del |