Linked Data
gnomAD v4:
14-28768348-TCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768351_28768353del , CM000676.2:g.28768351_28768353del | GRCh38 |
| NC_000014.8:g.29237557_29237559del , CM000676.1:g.29237557_29237559del | GRCh37 |
| NC_000014.7:g.28307308_28307310del | NCBI36 |
| NG_009367.1:g.6271_6273del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1072_1074del | ENSP00000516406.1:p.Thr358del | |
| ENST00000313071.7:c.1072_1074del MANE Select | ENSP00000339004.3:p.Thr358del | |
| ENST00000313071.6:c.1072_1074del | ENSP00000339004.3:p.Thr358del | |
| NM_005249.4:c.1072_1074del | NP_005240.3:p.Thr358del | |
| NM_005249.5:c.1072_1074del MANE Select | NP_005240.3:p.Thr358del |