Linked Data
gnomAD v4:
6-6145425-AACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145426_6145429del , CM000668.2:g.6145426_6145429del | GRCh38 |
| NC_000006.11:g.6145659_6145662del , CM000668.1:g.6145659_6145662del | GRCh37 |
| NC_000006.10:g.6090658_6090661del | NCBI36 |
| NG_008107.1:g.180263_180266del , LRG_549:g.180263_180266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*190_*193del MANE Select | ENSP00000264870.3:n.*190_*193del | |
| ENST00000264870.7:c.*190_*193del | ENSP00000264870.3:n.*190_*193del | |
| NM_000129.3:c.*190_*193del , LRG_549t1:c.*190_*193del | NP_000120.2:n.*190_*193del | |
| XM_006715010.2:c.*190_*193del | XP_006715073.1:n.*190_*193del | |
| XM_011514342.1:c.*190_*193del | XP_011512644.1:n.*190_*193del | |
| NM_000129.4:c.*190_*193del MANE Select | NP_000120.2:n.*190_*193del |