Linked Data
gnomAD v4:
14-28767670-GGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767672_28767673del , CM000676.2:g.28767672_28767673del | GRCh38 |
| NC_000014.8:g.29236878_29236879del , CM000676.1:g.29236878_29236879del | GRCh37 |
| NC_000014.7:g.28306629_28306630del | NCBI36 |
| NG_009367.1:g.5592_5593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.393_394del | ENSP00000516406.1:p.Gly132ArgfsTer? | |
| ENST00000313071.7:c.393_394del MANE Select | ENSP00000339004.3:p.Gly132ArgfsTer? | |
| ENST00000313071.6:c.393_394del | ENSP00000339004.3:p.Gly132ArgfsTer? | |
| NM_005249.4:c.393_394del | NP_005240.3:p.Gly132ArgfsTer? | |
| NM_005249.5:c.393_394del MANE Select | NP_005240.3:p.Gly132ArgfsTer? |