Linked Data
gnomAD v4:
17-66227881-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66227884_66227886del , CM000679.2:g.66227884_66227886del | GRCh38 |
| NC_000017.10:g.64224002_64224004del , CM000679.1:g.64224002_64224004del | GRCh37 |
| NC_000017.9:g.61654464_61654466del | NCBI36 |
| NG_012045.1:g.6555_6557del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.241+136_241+138del MANE Select | ENSP00000205948.6:n.241+136_241+138del | |
| ENST00000205948.10:c.241+136_241+138del | ENSP00000205948.6:n.241+136_241+138del | |
| ENST00000577982.1:c.241+136_241+138del | ENSP00000464301.1:n.241+136_241+138del | |
| ENST00000581797.5:c.61+136_61+138del | ENSP00000463553.1:n.61+136_61+138del | |
| NM_000042.2:c.241+136_241+138del | NP_000033.2:n.241+136_241+138del | |
| NM_000042.3:c.241+136_241+138del MANE Select | NP_000033.2:n.241+136_241+138del |