Linked Data
gnomAD v4:
17-66228145-GTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228148_66228150del , CM000679.2:g.66228148_66228150del | GRCh38 |
| NC_000017.10:g.64224266_64224268del , CM000679.1:g.64224266_64224268del | GRCh37 |
| NC_000017.9:g.61654728_61654730del | NCBI36 |
| NG_012045.1:g.6291_6293del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.113_115del MANE Select | ENSP00000205948.6:p.Lys38del | |
| ENST00000205948.10:c.113_115del | ENSP00000205948.6:p.Lys38del | |
| ENST00000577982.1:c.113_115del | ENSP00000464301.1:p.Lys38del | |
| ENST00000581797.5:c.-68_-66del | ENSP00000463553.1:n.-68_-66del | |
| NM_000042.2:c.113_115del | NP_000033.2:p.Lys38del | |
| NM_000042.3:c.113_115del MANE Select | NP_000033.2:p.Lys38del |