Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799215_215799227del , CM000663.2:g.215799215_215799227del | GRCh38 |
| NC_000001.10:g.215972557_215972569del , CM000663.1:g.215972557_215972569del | GRCh37 |
| NC_000001.9:g.214039180_214039192del | NCBI36 |
| NG_009497.1:g.629170_629182del | |
| NG_009497.2:g.629222_629234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-102_9740-90del MANE Select | ENSP00000305941.3:n.9740-102_9740-90del | |
| ENST00000674083.1:c.9740-102_9740-90del | ENSP00000501296.1:n.9740-102_9740-90del | |
| ENST00000307340.7:c.9740-102_9740-90del | ENSP00000305941.3:n.9740-102_9740-90del | |
| NM_206933.2:c.9740-102_9740-90del | NP_996816.2:n.9740-102_9740-90del | |
| NM_206933.3:c.9740-102_9740-90del | NP_996816.2:n.9740-102_9740-90del | |
| NM_206933.4:c.9740-102_9740-90del MANE Select | NP_996816.3:n.9740-102_9740-90del |