Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48689065_48689075del , CM000685.2:g.48689065_48689075del | GRCh38 |
| NC_000023.10:g.48547454_48547464del , CM000685.1:g.48547454_48547464del | GRCh37 |
| NC_000023.9:g.48432398_48432408del | NCBI36 |
| NG_007877.1:g.10269_10279del , LRG_125:g.10269_10279del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.581_582+9del | ||
| ENST00000698625.1:c.1337_1338+9del | ||
| ENST00000698626.1:c.1337_1338+9del | ||
| ENST00000698635.1:c.1337_1338+9del | ||
| ENST00000376701.5:c.1337_1338+9del | ||
| ENST00000376701.4:c.1337_1338+9del | ||
| ENST00000470107.1:n.46_47+9del | ||
| NM_000377.2:c.1337_1338+9del , LRG_125t1:c.1337_1338+9del | ||
| XM_011543977.1:c.1181_1182+9del | ||
| XM_011543977.2:c.1181_1182+9del | ||
| XM_017029786.1:c.1337_1338+9del | ||
| NM_000377.3:c.1337_1338+9del |