Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20353112_20353113delinsCA , CM000678.2:g.20353112_20353113delinsCA | GRCh38 |
| NC_000016.9:g.20364434_20364435delinsCA , CM000678.1:g.20364434_20364435delinsCA | GRCh37 |
| NC_000016.8:g.20271935_20271936delinsCA | NCBI36 |
| NG_008151.1:g.4603_4604delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570689.5:c.-39-2337_-39-2336delinsTG | ENSP00000460548.1:n.-39-2337_-39-2336delinsTG | |
| XM_011545938.1:c.-39-2337_-39-2336delinsTG | XP_011544240.1:n.-39-2337_-39-2336delinsTG |