Linked Data
ClinVar Variation Id:
1533936
ClinVar RCV Id:
RCV002082750
dbSNP Id:
rs776965442
ExAC:
1:193111212 TA / T
gnomAD v2:
1-193111212-TA-T
gnomAD v3:
1-193142082-TA-T
gnomAD v4:
1-193142082-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142083del , CM000663.2:g.193142083del | GRCh38 |
| NC_000001.10:g.193111213del , CM000663.1:g.193111213del | GRCh37 |
| NC_000001.9:g.191377836del | NCBI36 |
| NG_012691.1:g.25126del , LRG_507:g.25126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.729+17del MANE Select | ENSP00000356405.4:n.729+17del | |
| ENST00000635846.1:c.729+17del | ENSP00000490035.1:n.729+17del | |
| ENST00000643006.1:c.729+17del | ENSP00000496633.1:n.729+17del | |
| ENST00000643784.1:c.*205+17del | ENSP00000494944.1:n.*205+17del | |
| ENST00000647662.1:n.630+17del | ||
| ENST00000648071.1:c.*705+17del | ENSP00000497513.1:n.*705+17del | |
| ENST00000649606.1:n.742+17del | ||
| ENST00000649895.1:n.947+17del | ||
| ENST00000650197.1:c.729+17del | ENSP00000496929.1:n.729+17del | |
| ENST00000367435.3:c.729+17del | ENSP00000356405.3:n.729+17del | |
| NM_024529.4:c.729+17del , LRG_507t1:c.729+17del | NP_078805.3:n.729+17del | |
| XM_006711537.2:c.729+17del | XP_006711600.1:n.729+17del | |
| XM_006711537.4:c.729+17del | XP_006711600.1:n.729+17del | |
| NM_024529.5:c.729+17del MANE Select | NP_078805.3:n.729+17del |