Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15879332_15879333del , CM000681.2:g.15879332_15879333del | GRCh38 |
| NC_000019.9:g.15990142_15990143del , CM000681.1:g.15990142_15990143del | GRCh37 |
| NC_000019.8:g.15851142_15851143del | NCBI36 |
| NG_007971.2:g.23745_23746del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.1397+16_1397+17del MANE Select | ENSP00000221700.3:n.1397+16_1397+17del | |
| ENST00000011989.11:c.1397+16_1397+17del | ENSP00000011989.8:n.1397+16_1397+17del | |
| ENST00000221700.10:c.1397+16_1397+17del | ENSP00000221700.3:n.1397+16_1397+17del | |
| ENST00000392846.7:n.1340+16_1340+17del | ||
| ENST00000589654.2:c.185+16_185+17del | ||
| NM_001082.4:c.1397+16_1397+17del | NP_001073.3:n.1397+16_1397+17del | |
| NM_001082.5:c.1397+16_1397+17del MANE Select | NP_001073.3:n.1397+16_1397+17del |