Linked Data
ClinVar Variation Id:
1401301
ClinVar RCV Id:
RCV001911742
dbSNP Id:
rs2136090624
gnomAD v4:
12-76346903-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346907_76346908del , CM000674.2:g.76346907_76346908del | GRCh38 |
| NC_000012.11:g.76740687_76740688del , CM000674.1:g.76740687_76740688del | GRCh37 |
| NC_000012.10:g.75264818_75264819del | NCBI36 |
| NG_016357.1:g.6538_6539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1080_1081del MANE Select | ENSP00000497413.1:p.Cys360Ter | |
| ENST00000393262.3:c.1080_1081del | ENSP00000376946.3:p.Cys360Ter | |
| NM_024685.3:c.1080_1081del | NP_078961.3:p.Cys360Ter | |
| NM_024685.4:c.1080_1081del MANE Select | NP_078961.3:p.Cys360Ter |