Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799209_215799211del , CM000663.2:g.215799209_215799211del | GRCh38 |
| NC_000001.10:g.215972551_215972553del , CM000663.1:g.215972551_215972553del | GRCh37 |
| NC_000001.9:g.214039174_214039176del | NCBI36 |
| NG_009497.1:g.629186_629188del | |
| NG_009497.2:g.629238_629240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-86_9740-84del MANE Select | ENSP00000305941.3:n.9740-86_9740-84del | |
| ENST00000674083.1:c.9740-86_9740-84del | ENSP00000501296.1:n.9740-86_9740-84del | |
| ENST00000307340.7:c.9740-86_9740-84del | ENSP00000305941.3:n.9740-86_9740-84del | |
| NM_206933.2:c.9740-86_9740-84del | NP_996816.2:n.9740-86_9740-84del | |
| NM_206933.3:c.9740-86_9740-84del | NP_996816.2:n.9740-86_9740-84del | |
| NM_206933.4:c.9740-86_9740-84del MANE Select | NP_996816.3:n.9740-86_9740-84del |