Linked Data
ClinVar Variation Id:
321409
ClinVar RCV Id:
RCV000280762
dbSNP Id:
rs886052501
gnomAD v3:
16-89918945-TGGG-T
gnomAD v4:
16-89918945-TGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918947_89918949del , CM000678.2:g.89918947_89918949del | GRCh38 |
| NC_000016.9:g.89985355_89985357del , CM000678.1:g.89985355_89985357del | GRCh37 |
| NC_000016.8:g.88512856_88512858del | NCBI36 |
| NG_012026.1:g.6069_6071del | |
| NG_027810.1:g.1939_1941del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.-312_-310del MANE Select | ENSP00000451605.1:n.-312_-310del | |
| ENST00000639847.1:c.-312_-310del | ENSP00000492011.1:n.-312_-310del | |
| ENST00000555147.1:c.-312_-310del | ENSP00000451605.1:n.-312_-310del | |
| ENST00000555427.1:c.-312_-310del | ENSP00000451760.1:n.-312_-310del | |
| NM_002386.3:c.-312_-310del | NP_002377.4:n.-312_-310del | |
| NM_002386.4:c.-312_-310del MANE Select | NP_002377.4:n.-312_-310del |