Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977974_149977976delinsATT , CM000667.2:g.149977974_149977976delinsATT | GRCh38 |
| NC_000005.9:g.149357537_149357539delinsATT , CM000667.1:g.149357537_149357539delinsATT | GRCh37 |
| NC_000005.8:g.149337730_149337732delinsATT | NCBI36 |
| NG_007147.2:g.19092_19094delinsATT , LRG_684:g.19092_19094delinsATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.554_556delinsATT | ||
| ENST00000286298.5:c.322_324delinsATT MANE Select | ENSP00000286298.4:p.Ile108= | |
| ENST00000286298.4:c.322_324delinsATT | ENSP00000286298.4:p.Ile108= | |
| NM_000112.3:c.322_324delinsATT , LRG_684t1:c.322_324delinsATT | NP_000103.2:p.Ile108= | |
| XM_017009191.2:c.322_324delinsATT | XP_016864680.1:p.Ile108= | |
| NM_000112.4:c.322_324delinsATT MANE Select | NP_000103.2:p.Ile108= |