Linked Data
ClinVar Variation Id:
252020
ClinVar RCV Id:
RCV000237879
dbSNP Id:
rs879255014
PubMed:
PMID:11810272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116912del , CM000681.2:g.11116912del | GRCh38 |
| NC_000019.9:g.11227588del , CM000681.1:g.11227588del | GRCh37 |
| NC_000019.8:g.11088588del | NCBI36 |
| NG_009060.1:g.32532del , LRG_274:g.32532del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2017del | ENSP00000252444.6:p.Ser673AlafsTer? | |
| ENST00000559340.2:c.1705+700del | ENSP00000453696.2:n.1705+700del | |
| ENST00000560467.2:c.1639del | ENSP00000453513.2:p.Ser547AlafsTer? | |
| ENST00000558518.6:c.1759del MANE Select | ENSP00000454071.1:p.Ser587AlafsTer? | |
| ENST00000252444.9:c.2013del | ||
| ENST00000455727.6:c.1255del | ENSP00000397829.2:p.Ser419AlafsTer? | |
| ENST00000535915.5:c.1636del | ENSP00000440520.1:p.Ser546AlafsTer? | |
| ENST00000545707.5:c.1378del | ENSP00000437639.1:p.Ser460AlafsTer? | |
| ENST00000557933.5:c.1759del | ENSP00000453557.1:p.Ser587AlafsTer? | |
| ENST00000558013.5:c.1759del | ENSP00000453346.1:p.Ser587AlafsTer? | |
| ENST00000558518.5:c.1759del | ENSP00000454071.1:p.Ser587AlafsTer? | |
| ENST00000559340.1:c.426+700del | ||
| NM_000527.4:c.1759del , LRG_274t1:c.1759del | NP_000518.1:p.Ser587AlafsTer? | |
| NM_001195798.1:c.1759del | NP_001182727.1:p.Ser587AlafsTer? | |
| NM_001195799.1:c.1636del | NP_001182728.1:p.Ser546AlafsTer? | |
| NM_001195800.1:c.1255del | NP_001182729.1:p.Ser419AlafsTer? | |
| NM_001195803.1:c.1378del | NP_001182732.1:p.Ser460AlafsTer? | |
| XM_011528010.1:c.1759del | XP_011526312.1:p.Ser587AlafsTer? | |
| XM_011528011.1:c.1378del | XP_011526313.1:p.Ser460AlafsTer? | |
| XR_244074.2:n.1855+700del | ||
| XM_011528010.2:c.1759del | XP_011526312.1:p.Ser587AlafsTer? | |
| XR_001753685.2:n.1876del | ||
| XR_001753686.2:n.1822+700del | ||
| NM_000527.5:c.1759del MANE Select | NP_000518.1:p.Ser587AlafsTer? | |
| NM_001195798.2:c.1759del | NP_001182727.1:p.Ser587AlafsTer? | |
| NM_001195799.2:c.1636del | NP_001182728.1:p.Ser546AlafsTer? | |
| NM_001195800.2:c.1255del | NP_001182729.1:p.Ser419AlafsTer? | |
| NM_001195803.2:c.1378del | NP_001182732.1:p.Ser460AlafsTer? |