Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21012521del , CM000664.2:g.21012521del | GRCh38 |
| NC_000002.11:g.21235393del , CM000664.1:g.21235393del | GRCh37 |
| NC_000002.10:g.21088898del | NCBI36 |
| NG_011793.1:g.36556del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*3656del | ENSP00000501110.2:n.*3656del | |
| ENST00000673739.1:c.4064del | ENSP00000501110.1:n.4064del | |
| ENST00000233242.5:c.4350del MANE Select | ENSP00000233242.1:p.Gly1451ValfsTer3 | |
| ENST00000616098.4:c.4350del | ENSP00000477990.1:p.Gly1451ValfsTer3 | |
| NM_000384.2:c.4350del | NP_000375.2:p.Gly1451ValfsTer3 | |
| XM_011532809.1:c.4350del | XP_011531111.1:p.Gly1451ValfsTer3 | |
| NM_000384.3:c.4350del MANE Select | NP_000375.3:p.Gly1451ValfsTer3 |