Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728483_215728485del , CM000663.2:g.215728483_215728485del | GRCh38 |
| NC_000001.10:g.215901825_215901827del , CM000663.1:g.215901825_215901827del | GRCh37 |
| NC_000001.9:g.213968448_213968450del | NCBI36 |
| NG_009497.1:g.699912_699914del | |
| NG_009497.2:g.699964_699966del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11712-101_11712-99del MANE Select | ENSP00000305941.3:n.11712-101_11712-99del | |
| ENST00000674083.1:c.11712-101_11712-99del | ENSP00000501296.1:n.11712-101_11712-99del | |
| ENST00000307340.7:c.11712-101_11712-99del | ENSP00000305941.3:n.11712-101_11712-99del | |
| NM_206933.2:c.11712-101_11712-99del | NP_996816.2:n.11712-101_11712-99del | |
| NM_206933.3:c.11712-101_11712-99del | NP_996816.2:n.11712-101_11712-99del | |
| NM_206933.4:c.11712-101_11712-99del MANE Select | NP_996816.3:n.11712-101_11712-99del |