Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981542_149981543delinsTG , CM000667.2:g.149981542_149981543delinsTG | GRCh38 |
| NC_000005.9:g.149361105_149361106delinsTG , CM000667.1:g.149361105_149361106delinsTG | GRCh37 |
| NC_000005.8:g.149341298_149341299delinsTG | NCBI36 |
| NG_007147.2:g.22660_22661delinsTG , LRG_684:g.22660_22661delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1949_1950delinsTG MANE Select | ENSP00000286298.4:p.Val650= | |
| ENST00000286298.4:c.1949_1950delinsTG | ENSP00000286298.4:p.Val650= | |
| ENST00000503336.1:c.372+3191_372+3192delinsTG | ENSP00000426053.1:n.372+3191_372+3192delinsTG | |
| NM_000112.3:c.1949_1950delinsTG , LRG_684t1:c.1949_1950delinsTG | NP_000103.2:p.Val650= | |
| XM_017009191.2:c.1949_1950delinsTG | XP_016864680.1:p.Val650= | |
| NM_000112.4:c.1949_1950delinsTG MANE Select | NP_000103.2:p.Val650= |