Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212191_23212208del , CM000670.2:g.23212191_23212208del | GRCh38 |
| NC_000008.10:g.23069704_23069721del , CM000670.1:g.23069704_23069721del | GRCh37 |
| NC_000008.9:g.23125649_23125666del | NCBI36 |
| NG_032107.1:g.17960_17977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.311_328del MANE Select | ENSP00000221132.3:p.Val104_Thr110delinsAla | |
| ENST00000221132.7:c.311_328del | ENSP00000221132.3:p.Val104_Thr110delinsAla | |
| ENST00000524158.5:c.-296_-279del | ENSP00000428884.1:n.-296_-279del | |
| ENST00000613472.1:c.32-9549_32-9532del | ENSP00000480778.1:n.32-9549_32-9532del | |
| NM_003844.3:c.311_328del | NP_003835.3:p.Val104_Thr110delinsAla | |
| NM_003844.4:c.311_328del MANE Select | NP_003835.3:p.Val104_Thr110delinsAla |