Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172912_172913delinsCA , CM000678.2:g.172912_172913delinsCA | GRCh38 |
| NC_000016.9:g.222911_222912delinsCA , CM000678.1:g.222911_222912delinsCA | GRCh37 |
| NC_000016.8:g.162911_162912delinsCA | NCBI36 |
| NG_000006.1:g.33775_33776delinsCA | |
| NG_059186.1:g.1262_1263delinsCA | |
| NG_059271.1:g.5066_5067delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-1_1delinsCA | ||
| ENST00000251595.10:c.-1_1delinsCA | ||
| ENST00000397806.1:c.-48_-47delinsCA | ENSP00000380908.1:n.-48_-47delinsCA | |
| ENST00000482565.1:n.19_20delinsCA | ||
| NM_000517.4:c.-1_1delinsCA | ||
| NM_000517.6:c.-1_1delinsCA |