Linked Data
ClinVar Variation Id:
1354651
ClinVar RCV Id:
RCV001866528
dbSNP Id:
rs2131289701
gnomAD v4:
9-124503091-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503095del , CM000671.2:g.124503095del | GRCh38 |
| NC_000009.11:g.127265374del , CM000671.1:g.127265374del | GRCh37 |
| NC_000009.10:g.126305195del | NCBI36 |
| NG_008176.1:g.9329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.231del MANE Select | ENSP00000362690.4:p.Met78CysfsTer11 | |
| ENST00000373588.8:c.231del | ENSP00000362690.4:p.Met78CysfsTer11 | |
| ENST00000455734.1:c.231del | ENSP00000393245.1:p.Met78CysfsTer11 | |
| ENST00000620110.4:c.231del | ENSP00000483309.1:p.Met78CysfsTer11 | |
| NM_004959.4:c.231del | NP_004950.2:p.Met78CysfsTer11 | |
| XM_005251871.2:c.231del | XP_005251928.1:p.Met78CysfsTer11 | |
| XM_005251872.3:c.-18+202del | XP_005251929.1:n.-18+202del | |
| XM_011518455.1:c.231del | XP_011516757.1:p.Met78CysfsTer11 | |
| XM_011518456.1:c.231del | XP_011516758.1:p.Met78CysfsTer11 | |
| NM_004959.5:c.231del MANE Select | NP_004950.2:p.Met78CysfsTer11 |