Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37780092del , CM000685.2:g.37780092del | GRCh38 |
| NC_000023.10:g.37639345del , CM000685.1:g.37639345del | GRCh37 |
| NC_000023.9:g.37524289del | NCBI36 |
| NG_009065.1:g.5076del , LRG_53:g.5076del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696170.1:c.15del | ENSP00000512461.1:p.Val6Ter | |
| ENST00000696171.1:c.15del | ENSP00000512462.1:p.Val6Ter | |
| ENST00000696172.1:c.15del | ENSP00000512463.1:p.Val6Ter | |
| ENST00000696173.1:n.23del | ||
| ENST00000378588.5:c.15del MANE Select | ENSP00000367851.4:p.Val6Ter | |
| ENST00000378588.4:c.15del | ENSP00000367851.4:p.Val6Ter | |
| ENST00000465127.1:c.171+354092del | ENSP00000417050.1:n.171+354092del | |
| NM_000397.3:c.15del , LRG_53t1:c.15del | NP_000388.2:p.Val6Ter | |
| NM_000397.4:c.15del MANE Select | NP_000388.2:p.Val6Ter |