Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122087_18122088delinsTG , CM000668.2:g.18122087_18122088delinsTG | GRCh38 |
| NC_000006.11:g.18122318_18122319delinsTG , CM000668.1:g.18122318_18122319delinsTG | GRCh37 |
| NC_000006.10:g.18230297_18230298delinsTG | NCBI36 |
| NG_016750.1:g.5533_5534delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.519_520delinsCA MANE Select | ENSP00000345464.3:p.Asp173= | |
| ENST00000340650.4:c.519_520delinsCA | ENSP00000345464.3:p.Asp173= | |
| NM_198586.2:c.519_520delinsCA | NP_940988.2:p.Asp173= | |
| NM_198586.3:c.519_520delinsCA MANE Select | NP_940988.2:p.Asp173= |