Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713980_114713981delinsTG , CM000663.2:g.114713980_114713981delinsTG | GRCh38 |
| NC_000001.10:g.115256601_115256602delinsTG , CM000663.1:g.115256601_115256602delinsTG | GRCh37 |
| NC_000001.9:g.115058124_115058125delinsTG | NCBI36 |
| NG_007572.1:g.7914_7915delinsCA , LRG_92:g.7914_7915delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-3_112-2delinsCA MANE Select | ENSP00000358548.4:n.112-3_112-2delinsCA | |
| ENST00000369535.4:c.112-3_112-2delinsCA | ENSP00000358548.4:n.112-3_112-2delinsCA | |
| NM_002524.4:c.112-3_112-2delinsCA | NP_002515.1:n.112-3_112-2delinsCA | |
| NM_002524.5:c.112-3_112-2delinsCA MANE Select | NP_002515.1:n.112-3_112-2delinsCA |