Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353511_69353512insTTTTTTTTTTTTTTTT , CM000674.2:g.69353511_69353512insTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000012.11:g.69747291_69747292insTTTTTTTTTTTTTTTT , CM000674.1:g.69747291_69747292insTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000012.10:g.68033558_68033559insTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008195.1:g.10158_10159insTTTTTTTTTTTTTTTT , LRG_768:g.10158_10159insTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*292_*293insTTTTTTTTTTTTTTTT MANE Select | ENSP00000261267.2:n.*292_*293insTTTTTTTTTTTTTTTT | |
| ENST00000261267.6:c.*292_*293insTTTTTTTTTTTTTTTT | ENSP00000261267.2:n.*292_*293insTTTTTTTTTTTTTTTT | |
| NM_000239.2:c.*292_*293insTTTTTTTTTTTTTTTT , LRG_768t1:c.*292_*293insTTTTTTTTTTTTTTTT | NP_000230.1:n.*292_*293insTTTTTTTTTTTTTTTT | |
| NM_000239.3:c.*292_*293insTTTTTTTTTTTTTTTT MANE Select | NP_000230.1:n.*292_*293insTTTTTTTTTTTTTTTT |