Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215799172_215799173insACG , CM000663.2:g.215799172_215799173insACG | GRCh38 |
| NC_000001.10:g.215972514_215972515insACG , CM000663.1:g.215972514_215972515insACG | GRCh37 |
| NC_000001.9:g.214039137_214039138insACG | NCBI36 |
| NG_009497.1:g.629224_629225insCGT | |
| NG_009497.2:g.629276_629277insCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9740-48_9740-47insCGT MANE Select | ENSP00000305941.3:n.9740-48_9740-47insCGT | |
| ENST00000674083.1:c.9740-48_9740-47insCGT | ENSP00000501296.1:n.9740-48_9740-47insCGT | |
| ENST00000307340.7:c.9740-48_9740-47insCGT | ENSP00000305941.3:n.9740-48_9740-47insCGT | |
| NM_206933.2:c.9740-48_9740-47insCGT | NP_996816.2:n.9740-48_9740-47insCGT | |
| NM_206933.3:c.9740-48_9740-47insCGT | NP_996816.2:n.9740-48_9740-47insCGT | |
| NM_206933.4:c.9740-48_9740-47insCGT MANE Select | NP_996816.3:n.9740-48_9740-47insCGT |