Linked Data
ClinVar Variation Id:
251730
ClinVar RCV Id:
RCV000238492
dbSNP Id:
rs879254829
gnomAD v4:
19-11113295-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113297_11113298del , CM000681.2:g.11113297_11113298del | GRCh38 |
| NC_000019.9:g.11223973_11223974del , CM000681.1:g.11223973_11223974del | GRCh37 |
| NC_000019.8:g.11084973_11084974del | NCBI36 |
| NG_009060.1:g.28917_28918del , LRG_274:g.28917_28918del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1464_1465del | ENSP00000252444.6:p.Phe489HisfsTer? | |
| ENST00000559340.2:c.1206_1207del | ENSP00000453696.2:p.Phe403HisfsTer? | |
| ENST00000560467.2:c.1086_1087del | ENSP00000453513.2:p.Phe363HisfsTer? | |
| ENST00000558518.6:c.1206_1207del MANE Select | ENSP00000454071.1:p.Phe403HisfsTer? | |
| ENST00000252444.9:c.1460_1461del | ||
| ENST00000455727.6:c.702_703del | ENSP00000397829.2:p.Phe235HisfsTer? | |
| ENST00000535915.5:c.1083_1084del | ENSP00000440520.1:p.Phe362HisfsTer? | |
| ENST00000545707.5:c.825_826del | ENSP00000437639.1:p.Phe276HisfsTer? | |
| ENST00000557933.5:c.1206_1207del | ENSP00000453557.1:p.Phe403HisfsTer? | |
| ENST00000558013.5:c.1206_1207del | ENSP00000453346.1:p.Phe403HisfsTer? | |
| ENST00000558518.5:c.1206_1207del | ENSP00000454071.1:p.Phe403HisfsTer? | |
| ENST00000560173.1:n.205_206del | ||
| ENST00000560467.1:c.686_687del | ||
| NM_000527.4:c.1206_1207del , LRG_274t1:c.1206_1207del | NP_000518.1:p.Phe403HisfsTer? | |
| NM_001195798.1:c.1206_1207del | NP_001182727.1:p.Phe403HisfsTer? | |
| NM_001195799.1:c.1083_1084del | NP_001182728.1:p.Phe362HisfsTer? | |
| NM_001195800.1:c.702_703del | NP_001182729.1:p.Phe235HisfsTer? | |
| NM_001195803.1:c.825_826del | NP_001182732.1:p.Phe276HisfsTer? | |
| XM_011528010.1:c.1206_1207del | XP_011526312.1:p.Phe403HisfsTer? | |
| XM_011528011.1:c.825_826del | XP_011526313.1:p.Phe276HisfsTer? | |
| XR_244074.2:n.1356_1357del | ||
| XM_011528010.2:c.1206_1207del | XP_011526312.1:p.Phe403HisfsTer? | |
| XR_001753685.2:n.1323_1324del | ||
| XR_001753686.2:n.1323_1324del | ||
| NM_000527.5:c.1206_1207del MANE Select | NP_000518.1:p.Phe403HisfsTer? | |
| NM_001195798.2:c.1206_1207del | NP_001182727.1:p.Phe403HisfsTer? | |
| NM_001195799.2:c.1083_1084del | NP_001182728.1:p.Phe362HisfsTer? | |
| NM_001195800.2:c.702_703del | NP_001182729.1:p.Phe235HisfsTer? | |
| NM_001195803.2:c.825_826del | NP_001182732.1:p.Phe276HisfsTer? |