Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648512_215648513del , CM000663.2:g.215648512_215648513del | GRCh38 |
| NC_000001.10:g.215821854_215821855del , CM000663.1:g.215821854_215821855del | GRCh37 |
| NC_000001.9:g.213888477_213888478del | NCBI36 |
| NG_009497.1:g.779885_779886del | |
| NG_009497.2:g.779937_779938del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14582+16_14582+17del MANE Select | NP_996816.3:n.14582+16_14582+17del |
| ENST00000307340.8:c.14582+16_14582+17del MANE Select | ENSP00000305941.3:n.14582+16_14582+17del |
| NM_206933.2:c.14582+16_14582+17del | NP_996816.2:n.14582+16_14582+17del |
| NM_206933.3:c.14582+16_14582+17del | NP_996816.2:n.14582+16_14582+17del |
| ENST00000307340.7:c.14582+16_14582+17del | ENSP00000305941.3:n.14582+16_14582+17del |
| ENST00000674083.1:c.14582+16_14582+17del | ENSP00000501296.1:n.14582+16_14582+17del |