Linked Data
ClinVar Variation Id:
180180
ClinVar RCV Id:
RCV000157032
dbSNP Id:
rs730880023
PubMed:
PMID:20302578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7577041_7577045del , CM000668.2:g.7577041_7577045del | GRCh38 |
| NC_000006.11:g.7577274_7577278del , CM000668.1:g.7577274_7577278del | GRCh37 |
| NC_000006.10:g.7522273_7522277del | NCBI36 |
| NG_008803.1:g.40405_40409del , LRG_423:g.40405_40409del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.2876_2877+3del | ||
| ENST00000379802.8:c.2876_2877+3del | ||
| ENST00000379802.7:c.2876_2877+3del | ||
| ENST00000418664.2:c.2876_2877+3del | ||
| NM_001008844.1:c.2876_2877+3del | ||
| NM_004415.2:c.2876_2877+3del , LRG_423t1:c.2876_2877+3del | ||
| XM_011514323.1:c.2876_2877+3del | ||
| NM_001008844.2:c.2876_2877+3del | ||
| NM_001319034.1:c.2876_2877+3del | ||
| NM_004415.3:c.2876_2877+3del | ||
| NM_004415.4:c.2876_2877+3del | ||
| NM_001008844.3:c.2876_2877+3del | ||
| NM_001319034.2:c.2876_2877+3del |