Linked Data
ClinVar Variation Id:
252342
dbSNP Id:
rs747344293
gnomAD v4:
19-11129597-AC-A
PubMed:
PMID:7903864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129601del , CM000681.2:g.11129601del | GRCh38 |
| NC_000019.9:g.11240277del , CM000681.1:g.11240277del | GRCh37 |
| NC_000019.8:g.11101277del | NCBI36 |
| NG_009060.1:g.45221del , LRG_274:g.45221del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2736del | ENSP00000252444.6:p.Val913SerfsTer? | |
| ENST00000559340.2:c.*547del | ENSP00000453696.2:n.*547del | |
| ENST00000560467.2:c.2358del | ENSP00000453513.2:p.Val787SerfsTer? | |
| ENST00000558518.6:c.2478del MANE Select | ENSP00000454071.1:p.Val827SerfsTer? | |
| ENST00000252444.9:c.2732del | ||
| ENST00000455727.6:c.1974del | ENSP00000397829.2:p.Val659SerfsTer? | |
| ENST00000535915.5:c.2355del | ENSP00000440520.1:p.Val786SerfsTer? | |
| ENST00000545707.5:c.1944del | ENSP00000437639.1:p.Val649SerfsTer? | |
| ENST00000557933.5:c.2540del | ENSP00000453557.1:p.Pro847ArgfsTer9 | |
| ENST00000558013.5:c.2478del | ENSP00000453346.1:p.Val827SerfsTer? | |
| ENST00000558518.5:c.2478del | ENSP00000454071.1:p.Val827SerfsTer? | |
| ENST00000560628.1:n.108+1947del | ||
| NM_000527.4:c.2478del , LRG_274t1:c.2478del | NP_000518.1:p.Val827SerfsTer? | |
| NM_001195798.1:c.2478del | NP_001182727.1:p.Val827SerfsTer? | |
| NM_001195799.1:c.2355del | NP_001182728.1:p.Val786SerfsTer? | |
| NM_001195800.1:c.1974del | NP_001182729.1:p.Val659SerfsTer? | |
| NM_001195803.1:c.1944del | NP_001182732.1:p.Val649SerfsTer? | |
| XM_011528010.1:c.2400del | XP_011526312.1:p.Val801SerfsTer? | |
| XM_011528011.1:c.2097del | XP_011526313.1:p.Val700SerfsTer? | |
| XM_011528010.2:c.2400del | XP_011526312.1:p.Val801SerfsTer? | |
| XR_001753685.2:n.2812del | ||
| XR_001753686.2:n.2455del | ||
| NM_000527.5:c.2478del MANE Select | NP_000518.1:p.Val827SerfsTer? | |
| NM_001195798.2:c.2478del | NP_001182727.1:p.Val827SerfsTer? | |
| NM_001195799.2:c.2355del | NP_001182728.1:p.Val786SerfsTer? | |
| NM_001195800.2:c.1974del | NP_001182729.1:p.Val659SerfsTer? | |
| NM_001195803.2:c.1944del | NP_001182732.1:p.Val649SerfsTer? |