Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912087_4912088delinsGT , CM000674.2:g.4912087_4912088delinsGT | GRCh38 |
| NC_000012.11:g.5021253_5021254delinsGT , CM000674.1:g.5021253_5021254delinsGT | GRCh37 |
| NC_000012.10:g.4891514_4891515delinsGT | NCBI36 |
| NG_011815.1:g.7181_7182delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.709_710delinsGT MANE Select | ENSP00000371985.3:p.Val237= | |
| ENST00000543874.3:n.105+1615_105+1616delinsGT | ||
| ENST00000639306.1:c.547_548delinsGT | ENSP00000492506.1:p.Val183= | |
| ENST00000382545.3:c.709_710delinsGT | ENSP00000371985.3:p.Val237= | |
| ENST00000541095.1:n.105+1615_105+1616delinsGT | ||
| ENST00000543874.2:n.96+1615_96+1616delinsGT | ||
| NM_000217.2:c.709_710delinsGT | NP_000208.2:p.Val237= | |
| NM_000217.3:c.709_710delinsGT MANE Select | NP_000208.2:p.Val237= |