Linked Data
ClinVar Variation Id:
251097
dbSNP Id:
rs879254451
PubMed:
PMID:11462246
ERepo:
CA10584812/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102730_11102738del , CM000681.2:g.11102730_11102738del | GRCh38 |
| NC_000019.9:g.11213406_11213414del , CM000681.1:g.11213406_11213414del | GRCh37 |
| NC_000019.8:g.11074406_11074414del | NCBI36 |
| NG_009060.1:g.18350_18358del , LRG_274:g.18350_18358del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.515_523del | ENSP00000252444.6:p.Phe172_Arg174del | |
| ENST00000559340.2:c.257_265del | ENSP00000453696.2:p.Phe86_Arg88del | |
| ENST00000560467.2:c.257_265del | ENSP00000453513.2:p.Phe86_Arg88del | |
| ENST00000558518.6:c.257_265del MANE Select | ENSP00000454071.1:p.Phe86_Arg88del | |
| ENST00000252444.9:c.511_519del | ||
| ENST00000455727.6:c.257_265del | ENSP00000397829.2:p.Phe86_Arg88del | |
| ENST00000535915.5:c.190+2385_190+2393del | ENSP00000440520.1:n.190+2385_190+2393del | |
| ENST00000545707.5:c.257_265del | ENSP00000437639.1:p.Phe86_Arg88del | |
| ENST00000557933.5:c.257_265del | ENSP00000453557.1:p.Phe86_Arg88del | |
| ENST00000557958.1:n.343_351del | ||
| ENST00000558013.5:c.257_265del | ENSP00000453346.1:p.Phe86_Arg88del | |
| ENST00000558518.5:c.257_265del | ENSP00000454071.1:p.Phe86_Arg88del | |
| NM_000527.4:c.257_265del , LRG_274t1:c.257_265del | NP_000518.1:p.Phe86_Arg88del | |
| NM_001195798.1:c.257_265del | NP_001182727.1:p.Phe86_Arg88del | |
| NM_001195799.1:c.190+2385_190+2393del | NP_001182728.1:n.190+2385_190+2393del | |
| NM_001195800.1:c.257_265del | NP_001182729.1:p.Phe86_Arg88del | |
| NM_001195803.1:c.257_265del | NP_001182732.1:p.Phe86_Arg88del | |
| XM_011528010.1:c.257_265del | XP_011526312.1:p.Phe86_Arg88del | |
| XM_011528011.1:c.257_265del | XP_011526313.1:p.Phe86_Arg88del | |
| XR_244074.2:n.407_415del | ||
| XM_011528010.2:c.257_265del | XP_011526312.1:p.Phe86_Arg88del | |
| XR_001753685.2:n.374_382del | ||
| XR_001753686.2:n.374_382del | ||
| NM_000527.5:c.257_265del MANE Select | NP_000518.1:p.Phe86_Arg88del | |
| NM_001195798.2:c.257_265del | NP_001182727.1:p.Phe86_Arg88del | |
| NM_001195799.2:c.190+2385_190+2393del | NP_001182728.1:n.190+2385_190+2393del | |
| NM_001195800.2:c.257_265del | NP_001182729.1:p.Phe86_Arg88del | |
| NM_001195803.2:c.257_265del | NP_001182732.1:p.Phe86_Arg88del |