Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978077_149978078insTTGAT , CM000667.2:g.149978077_149978078insTTGAT | GRCh38 |
| NC_000005.9:g.149357640_149357641insTTGAT , CM000667.1:g.149357640_149357641insTTGAT | GRCh37 |
| NC_000005.8:g.149337833_149337834insTTGAT | NCBI36 |
| NG_007147.2:g.19195_19196insTTGAT , LRG_684:g.19195_19196insTTGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.657_658insTTGAT | ||
| ENST00000286298.5:c.425_426insTTGAT MANE Select | ENSP00000286298.4:p.Thr143Ter | |
| ENST00000286298.4:c.425_426insTTGAT | ENSP00000286298.4:p.Thr143Ter | |
| ENST00000503336.1:c.98_99insTTGAT | ENSP00000426053.1:p.Thr34Ter | |
| NM_000112.3:c.425_426insTTGAT , LRG_684t1:c.425_426insTTGAT | NP_000103.2:p.Thr143Ter | |
| XM_017009191.2:c.425_426insTTGAT | XP_016864680.1:p.Thr143Ter | |
| NM_000112.4:c.425_426insTTGAT MANE Select | NP_000103.2:p.Thr143Ter |