Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974521_94974522insTTTT , CM000672.2:g.94974521_94974522insTTTT | GRCh38 |
| NC_000010.10:g.96734278_96734279insTTTT , CM000672.1:g.96734278_96734279insTTTT | GRCh37 |
| NC_000010.9:g.96724268_96724269insTTTT | NCBI36 |
| NG_008385.1:g.40864_40865insTTTT | |
| NG_008385.2:g.41364_41365insTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.961+2276_961+2277insTTTT MANE Select | ENSP00000260682.6:n.961+2276_961+2277insT... | |
| ENST00000643112.1:c.820-6662_820-6661insTTTT | ENSP00000496202.1:n.820-6662_820-6661insT... | |
| ENST00000260682.6:c.961+2276_961+2277insTTTT | ENSP00000260682.6:n.961+2276_961+2277insT... | |
| NM_000771.3:c.961+2276_961+2277insTTTT | NP_000762.2:n.961+2276_961+2277insTTTT | |
| NM_000771.4:c.961+2276_961+2277insTTTT MANE Select | NP_000762.2:n.961+2276_961+2277insTTTT |