Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799157_215799158insACG , CM000663.2:g.215799157_215799158insACG | GRCh38 |
| NC_000001.10:g.215972499_215972500insACG , CM000663.1:g.215972499_215972500insACG | GRCh37 |
| NC_000001.9:g.214039122_214039123insACG | NCBI36 |
| NG_009497.1:g.629239_629240insCGT | |
| NG_009497.2:g.629291_629292insCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-33_9740-32insCGT MANE Select | ENSP00000305941.3:n.9740-33_9740-32insCGT | |
| ENST00000674083.1:c.9740-33_9740-32insCGT | ENSP00000501296.1:n.9740-33_9740-32insCGT | |
| ENST00000307340.7:c.9740-33_9740-32insCGT | ENSP00000305941.3:n.9740-33_9740-32insCGT | |
| NM_206933.2:c.9740-33_9740-32insCGT | NP_996816.2:n.9740-33_9740-32insCGT | |
| NM_206933.3:c.9740-33_9740-32insCGT | NP_996816.2:n.9740-33_9740-32insCGT | |
| NM_206933.4:c.9740-33_9740-32insCGT MANE Select | NP_996816.3:n.9740-33_9740-32insCGT |