Linked Data
ClinVar Variation Id:
251578
ClinVar RCV Id:
RCV000238155
dbSNP Id:
rs879254744
PubMed:
PMID:19318025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110680del , CM000681.2:g.11110680del | GRCh38 |
| NC_000019.9:g.11221356del , CM000681.1:g.11221356del | GRCh37 |
| NC_000019.8:g.11082356del | NCBI36 |
| NG_009060.1:g.26300del , LRG_274:g.26300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1227del | ENSP00000252444.6:p.Gly410AlafsTer? | |
| ENST00000559340.2:c.969del | ENSP00000453696.2:p.Gly324AlafsTer? | |
| ENST00000560467.2:c.941-834del | ENSP00000453513.2:n.941-834del | |
| ENST00000558518.6:c.969del MANE Select | ENSP00000454071.1:p.Gly324AlafsTer? | |
| ENST00000252444.9:c.1223del | ||
| ENST00000455727.6:c.465del | ENSP00000397829.2:p.Gly156AlafsTer? | |
| ENST00000535915.5:c.846del | ENSP00000440520.1:p.Gly283AlafsTer? | |
| ENST00000545707.5:c.588del | ENSP00000437639.1:p.Gly197AlafsTer? | |
| ENST00000557933.5:c.969del | ENSP00000453557.1:p.Gly324AlafsTer? | |
| ENST00000558013.5:c.969del | ENSP00000453346.1:p.Gly324AlafsTer? | |
| ENST00000558518.5:c.969del | ENSP00000454071.1:p.Gly324AlafsTer? | |
| ENST00000560467.1:c.541-834del | ||
| NM_000527.4:c.969del , LRG_274t1:c.969del | NP_000518.1:p.Gly324AlafsTer? | |
| NM_001195798.1:c.969del | NP_001182727.1:p.Gly324AlafsTer? | |
| NM_001195799.1:c.846del | NP_001182728.1:p.Gly283AlafsTer? | |
| NM_001195800.1:c.465del | NP_001182729.1:p.Gly156AlafsTer? | |
| NM_001195803.1:c.588del | NP_001182732.1:p.Gly197AlafsTer? | |
| XM_011528010.1:c.969del | XP_011526312.1:p.Gly324AlafsTer? | |
| XM_011528011.1:c.588del | XP_011526313.1:p.Gly197AlafsTer? | |
| XR_244074.2:n.1119del | ||
| XM_011528010.2:c.969del | XP_011526312.1:p.Gly324AlafsTer? | |
| XR_001753685.2:n.1086del | ||
| XR_001753686.2:n.1086del | ||
| NM_000527.5:c.969del MANE Select | NP_000518.1:p.Gly324AlafsTer? | |
| NM_001195798.2:c.969del | NP_001182727.1:p.Gly324AlafsTer? | |
| NM_001195799.2:c.846del | NP_001182728.1:p.Gly283AlafsTer? | |
| NM_001195800.2:c.465del | NP_001182729.1:p.Gly156AlafsTer? | |
| NM_001195803.2:c.588del | NP_001182732.1:p.Gly197AlafsTer? |