Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981822_149981826delinsGTAGA , CM000667.2:g.149981822_149981826delinsGTAGA | GRCh38 |
| NC_000005.9:g.149361385_149361389delinsGTAGA , CM000667.1:g.149361385_149361389delinsGTAGA | GRCh37 |
| NC_000005.8:g.149341578_149341582delinsGTAGA | NCBI36 |
| NG_007147.2:g.22940_22944delinsGTAGA , LRG_684:g.22940_22944delinsGTAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*9_*13delinsGTAGA MANE Select | ENSP00000286298.4:n.*9_*13delinsGTAGA | |
| ENST00000286298.4:c.*9_*13delinsGTAGA | ENSP00000286298.4:n.*9_*13delinsGTAGA | |
| ENST00000503336.1:c.372+3471_372+3475delinsGTAGA | ENSP00000426053.1:n.372+3471_372+3475delinsGTAGA | |
| NM_000112.3:c.*9_*13delinsGTAGA , LRG_684t1:c.*9_*13delinsGTAGA | NP_000103.2:n.*9_*13delinsGTAGA | |
| XM_017009191.2:c.*9_*12+1delinsGTAGA | ||
| NM_000112.4:c.*9_*13delinsGTAGA MANE Select | NP_000103.2:n.*9_*13delinsGTAGA |