Linked Data
ClinVar Variation Id:
251536
ClinVar RCV Id:
RCV000237648
dbSNP Id:
rs879254727
PubMed:
PMID:15701167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107513_11107517del , CM000681.2:g.11107513_11107517del | GRCh38 |
| NC_000019.9:g.11218189_11218193del , CM000681.1:g.11218189_11218193del | GRCh37 |
| NC_000019.8:g.11079189_11079193del | NCBI36 |
| NG_009060.1:g.23133_23137del , LRG_274:g.23133_23137del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1197_1198+3del | ||
| ENST00000559340.2:c.939_940+3del | ||
| ENST00000560467.2:c.939_940+3del | ||
| ENST00000558518.6:c.939_940+3del | ||
| ENST00000252444.9:c.1193_1194+3del | ||
| ENST00000455727.6:c.435_436+3del | ||
| ENST00000535915.5:c.816_817+3del | ||
| ENST00000545707.5:c.558_559+3del | ||
| ENST00000557933.5:c.939_940+3del | ||
| ENST00000558013.5:c.939_940+3del | ||
| ENST00000558518.5:c.939_940+3del | ||
| ENST00000560467.1:c.539_540+3del | ||
| NM_000527.4:c.939_940+3del , LRG_274t1:c.939_940+3del | ||
| NM_001195798.1:c.939_940+3del | ||
| NM_001195799.1:c.816_817+3del | ||
| NM_001195800.1:c.435_436+3del | ||
| NM_001195803.1:c.558_559+3del | ||
| XM_011528010.1:c.939_940+3del | ||
| XM_011528011.1:c.558_559+3del | ||
| XR_244074.2:n.1089_1090+3del | ||
| XM_011528010.2:c.939_940+3del | ||
| XR_001753685.2:n.1056_1057+3del | ||
| XR_001753686.2:n.1056_1057+3del | ||
| NM_000527.5:c.939_940+3del | ||
| NM_001195798.2:c.939_940+3del | ||
| NM_001195799.2:c.816_817+3del | ||
| NM_001195800.2:c.435_436+3del | ||
| NM_001195803.2:c.558_559+3del |