Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26034551_26034552insTT , CM000670.2:g.26034551_26034552insTT | GRCh38 |
| NC_000008.10:g.25892067_25892068insTT , CM000670.1:g.25892067_25892068insTT | GRCh37 |
| NC_000008.9:g.25947984_25947985insTT | NCBI36 |
| NG_030344.1:g.15574_15575insAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520164.6:c.483-1398_483-1397insAA MANE Select | ENSP00000430241.1:n.483-1398_483-1397insA... | |
| ENST00000408929.7:c.39-1398_39-1397insAA | ENSP00000386178.3:n.39-1398_39-1397insAA | |
| ENST00000517825.1:n.802-1398_802-1397insAA | ||
| ENST00000520164.5:c.483-1398_483-1397insAA | ENSP00000430241.1:n.483-1398_483-1397insA... | |
| NM_022659.3:c.483-1398_483-1397insAA | NP_073150.2:n.483-1398_483-1397insAA | |
| NM_022659.4:c.483-1398_483-1397insAA MANE Select | NP_073150.2:n.483-1398_483-1397insAA |