Linked Data
gnomAD v4:
17-63945669-TCTCCCAGCCTCTGAGAGAGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945674_63945694del , CM000679.2:g.63945674_63945694del | GRCh38 |
| NC_000017.10:g.62023034_62023054del , CM000679.1:g.62023034_62023054del | GRCh37 |
| NC_000017.9:g.59376766_59376786del | NCBI36 |
| NG_011699.1:g.32229_32249del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3442-52_3442-32del MANE Select | ENSP00000396320.1:n.3442-52_3442-32del | |
| ENST00000578147.5:c.3442-52_3442-32del | ENSP00000463963.1:n.3442-52_3442-32del | |
| NM_000334.4:c.3442-52_3442-32del MANE Select | NP_000325.4:n.3442-52_3442-32del | |
| XM_005257566.3:c.3442-52_3442-32del | XP_005257623.1:n.3442-52_3442-32del |