Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247671_39247672del , CM000681.2:g.39247671_39247672del | GRCh38 |
| NC_000019.9:g.39738311_39738312del , CM000681.1:g.39738311_39738312del | GRCh37 |
| NC_000019.8:g.44430151_44430152del | NCBI36 |
| NG_042193.1:g.2301_2302del | |
| NG_055295.1:g.6186_6187del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+37_367+38del | ENSP00000476098.1:n.367+37_367+38del | |
| ENST00000610963.1:c.366+37_366+38del | ENSP00000481371.1:n.366+37_366+38del | |
| ENST00000616270.4:c.224-5_224-4del | ENSP00000480679.1:n.224-5_224-4del | |
| ENST00000634680.1:c.152-208_152-207del | ENSP00000489240.1:n.152-208_152-207del | |
| ENST00000634967.1:c.224-208_224-207del | ENSP00000489559.1:n.224-208_224-207del | |
| NR_074079.1:n.644+37_644+38del |