Linked Data
gnomAD v4:
14-75009089-GCTCAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009090_75009094del , CM000676.2:g.75009090_75009094del | GRCh38 |
| NC_000014.8:g.75475793_75475797del , CM000676.1:g.75475793_75475797del | GRCh37 |
| NC_000014.7:g.74545546_74545550del | NCBI36 |
| NG_013333.1:g.11182_11186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.958_962del MANE Select | ENSP00000266126.5:p.Leu320TyrfsTer21 | |
| ENST00000266126.9:c.958_962del | ENSP00000266126.5:p.Leu320TyrfsTer21 | |
| ENST00000556668.1:n.538_542del | ||
| NM_014239.3:c.958_962del | NP_055054.1:p.Leu320TyrfsTer21 | |
| NM_014239.4:c.958_962del MANE Select | NP_055054.1:p.Leu320TyrfsTer21 |