Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444938_2444939insA , CM000673.2:g.2444938_2444939insA | GRCh38 |
| NC_000011.9:g.2466168_2466169insA , CM000673.1:g.2466168_2466169insA | GRCh37 |
| NC_000011.8:g.2422744_2422745insA | NCBI36 |
| NG_008935.1:g.4948_4949insA , LRG_287:g.4948_4949insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+230_23+231insA | ENSP00000434560.2:n.23+230_23+231insA | |
| ENST00000496887.6:c.23+230_23+231insA | ENSP00000434560.1:n.23+230_23+231insA |