Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990471_45990472insA , CM000683.2:g.45990471_45990472insA | GRCh38 |
| NC_000021.8:g.47410385_47410386insA , CM000683.1:g.47410385_47410386insA | GRCh37 |
| NC_000021.7:g.46234813_46234814insA | NCBI36 |
| NG_008674.1:g.13723_13724insA , LRG_475:g.13723_13724insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+49_1002+50insA MANE Select | ENSP00000355180.3:n.1002+49_1002+50insA | |
| ENST00000361866.7:c.1002+49_1002+50insA | ENSP00000355180.3:n.1002+49_1002+50insA | |
| ENST00000612273.1:c.1002+49_1002+50insA | ENSP00000483630.1:n.1002+49_1002+50insA | |
| NM_001848.2:c.1002+49_1002+50insA , LRG_475t1:c.1002+49_1002+50insA | NP_001839.2:n.1002+49_1002+50insA | |
| NM_001848.3:c.1002+49_1002+50insA MANE Select | NP_001839.2:n.1002+49_1002+50insA |