Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353295_69353299delinsTACCA , CM000674.2:g.69353295_69353299delinsTACCA | GRCh38 |
| NC_000012.11:g.69747075_69747079delinsTACCA , CM000674.1:g.69747075_69747079delinsTACCA | GRCh37 |
| NC_000012.10:g.68033342_68033346delinsTACCA | NCBI36 |
| NG_008195.1:g.9942_9946delinsTACCA , LRG_768:g.9942_9946delinsTACCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*76_*80delinsTACCA MANE Select | ENSP00000261267.2:n.*76_*80delinsTACCA | |
| ENST00000261267.6:c.*76_*80delinsTACCA | ENSP00000261267.2:n.*76_*80delinsTACCA | |
| ENST00000549690.1:c.*30_*34delinsTACCA | ENSP00000449898.1:n.*30_*34delinsTACCA | |
| NM_000239.2:c.*76_*80delinsTACCA , LRG_768t1:c.*76_*80delinsTACCA | NP_000230.1:n.*76_*80delinsTACCA | |
| NM_000239.3:c.*76_*80delinsTACCA MANE Select | NP_000230.1:n.*76_*80delinsTACCA |