Linked Data
gnomAD v4:
17-8015761-TGGTGGGCCTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015762_8015772del , CM000679.2:g.8015762_8015772del | GRCh38 |
| NC_000017.10:g.7919080_7919090del , CM000679.1:g.7919080_7919090del | GRCh37 |
| NC_000017.9:g.7859805_7859815del | NCBI36 |
| NG_009092.1:g.18093_18103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2964_2974del MANE Select | ENSP00000254854.4:p.Val989HisfsTer? | |
| ENST00000254854.4:c.2964_2974del | ENSP00000254854.4:p.Val989HisfsTer? | |
| NM_000180.3:c.2964_2974del | NP_000171.1:p.Val989HisfsTer? | |
| XM_011523816.1:c.2964_2974del | XP_011522118.1:p.Val989HisfsTer? | |
| NM_000180.4:c.2964_2974del MANE Select | NP_000171.1:p.Val989HisfsTer? |