Linked Data
ClinVar Variation Id:
251684
ClinVar RCV Id:
RCV000237581
dbSNP Id:
rs1555804793
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111588_11111653del , CM000681.2:g.11111588_11111653del | GRCh38 |
| NC_000019.9:g.11222264_11222329del , CM000681.1:g.11222264_11222329del | GRCh37 |
| NC_000019.8:g.11083264_11083329del | NCBI36 |
| NG_009060.1:g.27208_27273del , LRG_274:g.27208_27273del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1393_1444+14del | ||
| ENST00000559340.2:c.1135_1186+14del | ||
| ENST00000560467.2:c.1015_1066+14del | ||
| ENST00000558518.6:c.1135_1186+14del | ||
| ENST00000252444.9:c.1389_1440+14del | ||
| ENST00000455727.6:c.631_682+14del | ||
| ENST00000535915.5:c.1012_1063+14del | ||
| ENST00000545707.5:c.754_805+14del | ||
| ENST00000557933.5:c.1135_1186+14del | ||
| ENST00000558013.5:c.1135_1186+14del | ||
| ENST00000558518.5:c.1135_1186+14del | ||
| ENST00000560173.1:n.134_185+14del | ||
| ENST00000560467.1:c.615_666+14del | ||
| NM_000527.4:c.1135_1186+14del , LRG_274t1:c.1135_1186+14del | ||
| NM_001195798.1:c.1135_1186+14del | ||
| NM_001195799.1:c.1012_1063+14del | ||
| NM_001195800.1:c.631_682+14del | ||
| NM_001195803.1:c.754_805+14del | ||
| XM_011528010.1:c.1135_1186+14del | ||
| XM_011528011.1:c.754_805+14del | ||
| XR_244074.2:n.1285_1336+14del | ||
| XM_011528010.2:c.1135_1186+14del | ||
| XR_001753685.2:n.1252_1303+14del | ||
| XR_001753686.2:n.1252_1303+14del | ||
| NM_000527.5:c.1135_1186+14del | ||
| NM_001195798.2:c.1135_1186+14del | ||
| NM_001195799.2:c.1012_1063+14del | ||
| NM_001195800.2:c.631_682+14del | ||
| NM_001195803.2:c.754_805+14del |