Linked Data
gnomAD v4:
14-28768150-CGCCTCACCTCCACCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768160_28768174del , CM000676.2:g.28768160_28768174del | GRCh38 |
| NC_000014.8:g.29237366_29237380del , CM000676.1:g.29237366_29237380del | GRCh37 |
| NC_000014.7:g.28307117_28307131del | NCBI36 |
| NG_009367.1:g.6080_6094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.881_895del | ENSP00000516406.1:p.Ser294_Thr298del | |
| ENST00000313071.7:c.881_895del MANE Select | ENSP00000339004.3:p.Ser294_Thr298del | |
| ENST00000313071.6:c.881_895del | ENSP00000339004.3:p.Ser294_Thr298del | |
| NM_005249.4:c.881_895del | NP_005240.3:p.Ser294_Thr298del | |
| NM_005249.5:c.881_895del MANE Select | NP_005240.3:p.Ser294_Thr298del |