Linked Data
gnomAD v4:
2-21010581-TGTAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010584_21010587del , CM000664.2:g.21010584_21010587del | GRCh38 |
| NC_000002.11:g.21233456_21233459del , CM000664.1:g.21233456_21233459del | GRCh37 |
| NC_000002.10:g.21086961_21086964del | NCBI36 |
| NG_011793.1:g.38489_38492del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6283_6286del MANE Select | ENSP00000233242.1:p.Val2095ArgfsTer4 | |
| ENST00000616098.4:c.6283_6286del | ENSP00000477990.1:p.Val2095ArgfsTer4 | |
| NM_000384.2:c.6283_6286del | NP_000375.2:p.Val2095ArgfsTer4 | |
| XM_011532809.1:c.5869+148_5869+151del | XP_011531111.1:n.5869+148_5869+151del | |
| NM_000384.3:c.6283_6286del MANE Select | NP_000375.3:p.Val2095ArgfsTer4 |