Linked Data
gnomAD v4:
8-86739620-GTTTTTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739632_86739638del , CM000670.2:g.86739632_86739638del | GRCh38 |
| NC_000008.10:g.87751860_87751866del , CM000670.1:g.87751860_87751866del | GRCh37 |
| NC_000008.9:g.87820976_87820982del | NCBI36 |
| NG_016980.1:g.9049_9055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211+28_211+34del MANE Select | ENSP00000316605.5:n.211+28_211+34del | |
| ENST00000681746.1:c.211+28_211+34del | ENSP00000505959.1:n.211+28_211+34del | |
| ENST00000320005.5:c.211+28_211+34del | ENSP00000316605.5:n.211+28_211+34del | |
| ENST00000519777.1:n.193+28_193+34del | ||
| NM_019098.4:c.211+28_211+34del | NP_061971.3:n.211+28_211+34del | |
| NM_019098.5:c.211+28_211+34del MANE Select | NP_061971.3:n.211+28_211+34del |