Linked Data
ClinVar Variation Id:
10160
ClinVar RCV Id:
RCV000010873
dbSNP Id:
rs387906435
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154996998_154996999del , CM000685.2:g.154996998_154996999del | GRCh38 |
| NC_000023.10:g.154225273_154225274del , CM000685.1:g.154225273_154225274del | GRCh37 |
| NC_000023.9:g.153878467_153878468del | NCBI36 |
| NG_011403.1:g.30727_30728del | |
| NG_011403.2:g.30727_30728del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.364_365del MANE Select | ENSP00000353393.4:p.Val122IlefsTer7 | |
| ENST00000647125.1:c.*150_*151del | ENSP00000496062.1:n.*150_*151del | |
| ENST00000360256.8:c.364_365del | ENSP00000353393.4:p.Val122IlefsTer7 | |
| ENST00000423959.5:c.259_260del | ENSP00000409446.1:p.Val87IlefsTer7 | |
| ENST00000453950.1:c.346_347del | ENSP00000389153.1:p.Val116IlefsTer7 | |
| NM_000132.3:c.364_365del | NP_000123.1:p.Val122IlefsTer7 | |
| XM_011531126.1:c.259_260del | XP_011529428.1:p.Val87IlefsTer7 | |
| NM_000132.4:c.364_365del MANE Select | NP_000123.1:p.Val122IlefsTer7 |