Linked Data
ClinVar Variation Id:
1330441
ClinVar RCV Id:
RCV001803533
dbSNP Id:
rs1375296497
MyVariant Identifiers:
chrX:g.154966081del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966086del , CM000685.2:g.154966086del | GRCh38 |
| NC_000023.10:g.154194361del , CM000685.1:g.154194361del | GRCh37 |
| NC_000023.9:g.153847555del | NCBI36 |
| NG_011403.1:g.61643del | |
| NG_011403.2:g.61643del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1332del MANE Select | ENSP00000353393.4:p.Val445SerfsTer? | |
| ENST00000647125.1:c.*1208del | ENSP00000496062.1:n.*1208del | |
| ENST00000360256.8:c.1332del | ENSP00000353393.4:p.Val445SerfsTer? | |
| ENST00000483822.2:n.152del | ||
| NM_000132.3:c.1332del | NP_000123.1:p.Val445SerfsTer? | |
| XM_011531126.1:c.1227del | XP_011529428.1:p.Val410SerfsTer? | |
| NM_000132.4:c.1332del MANE Select | NP_000123.1:p.Val445SerfsTer? |