Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799238_215799240del , CM000663.2:g.215799238_215799240del | GRCh38 |
| NC_000001.10:g.215972580_215972582del , CM000663.1:g.215972580_215972582del | GRCh37 |
| NC_000001.9:g.214039203_214039205del | NCBI36 |
| NG_009497.1:g.629157_629159del | |
| NG_009497.2:g.629209_629211del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-115_9740-113del MANE Select | ENSP00000305941.3:n.9740-115_9740-113del | |
| ENST00000674083.1:c.9740-115_9740-113del | ENSP00000501296.1:n.9740-115_9740-113del | |
| ENST00000307340.7:c.9740-115_9740-113del | ENSP00000305941.3:n.9740-115_9740-113del | |
| NM_206933.2:c.9740-115_9740-113del | NP_996816.2:n.9740-115_9740-113del | |
| NM_206933.3:c.9740-115_9740-113del | NP_996816.2:n.9740-115_9740-113del | |
| NM_206933.4:c.9740-115_9740-113del MANE Select | NP_996816.3:n.9740-115_9740-113del |