Linked Data
ClinVar Variation Id:
252171
ClinVar RCV Id:
RCV000238576
dbSNP Id:
rs879255112
PubMed:
PMID:7903864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120397del , CM000681.2:g.11120397del | GRCh38 |
| NC_000019.9:g.11231073del , CM000681.1:g.11231073del | GRCh37 |
| NC_000019.8:g.11092073del | NCBI36 |
| NG_009060.1:g.36017del , LRG_274:g.36017del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2273del | ENSP00000252444.6:p.Leu758ArgfsTer? | |
| ENST00000559340.2:c.*84del | ENSP00000453696.2:n.*84del | |
| ENST00000560467.2:c.1895del | ENSP00000453513.2:p.Leu632ArgfsTer? | |
| ENST00000558518.6:c.2015del MANE Select | ENSP00000454071.1:p.Leu672ArgfsTer? | |
| ENST00000252444.9:c.2269del | ||
| ENST00000455727.6:c.1511del | ENSP00000397829.2:p.Leu504ArgfsTer? | |
| ENST00000535915.5:c.1892del | ENSP00000440520.1:p.Leu631ArgfsTer? | |
| ENST00000545707.5:c.1606+164del | ENSP00000437639.1:n.1606+164del | |
| ENST00000557933.5:c.2015del | ENSP00000453557.1:p.Leu672ArgfsTer? | |
| ENST00000558013.5:c.2015del | ENSP00000453346.1:p.Leu672ArgfsTer? | |
| ENST00000558518.5:c.2015del | ENSP00000454071.1:p.Leu672ArgfsTer? | |
| ENST00000559340.1:c.596del | ||
| NM_000527.4:c.2015del , LRG_274t1:c.2015del | NP_000518.1:p.Leu672ArgfsTer? | |
| NM_001195798.1:c.2015del | NP_001182727.1:p.Leu672ArgfsTer? | |
| NM_001195799.1:c.1892del | NP_001182728.1:p.Leu631ArgfsTer? | |
| NM_001195800.1:c.1511del | NP_001182729.1:p.Leu504ArgfsTer? | |
| NM_001195803.1:c.1606+164del | NP_001182732.1:n.1606+164del | |
| XM_011528010.1:c.2015del | XP_011526312.1:p.Leu672ArgfsTer? | |
| XM_011528011.1:c.1634del | XP_011526313.1:p.Leu545ArgfsTer? | |
| XR_244074.2:n.2025del | ||
| XM_011528010.2:c.2015del | XP_011526312.1:p.Leu672ArgfsTer? | |
| XR_001753685.2:n.2132del | ||
| XR_001753686.2:n.1992del | ||
| NM_000527.5:c.2015del MANE Select | NP_000518.1:p.Leu672ArgfsTer? | |
| NM_001195798.2:c.2015del | NP_001182727.1:p.Leu672ArgfsTer? | |
| NM_001195799.2:c.1892del | NP_001182728.1:p.Leu631ArgfsTer? | |
| NM_001195800.2:c.1511del | NP_001182729.1:p.Leu504ArgfsTer? | |
| NM_001195803.2:c.1606+164del | NP_001182732.1:n.1606+164del |