Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43997306_43997308delinsACT , CM000668.2:g.43997306_43997308delinsACT | GRCh38 |
| NC_000006.11:g.43965043_43965045delinsACT , CM000668.1:g.43965043_43965045delinsACT | GRCh37 |
| NC_000006.10:g.44073021_44073023delinsACT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125864.1:n.647_649delinsAGT (SCIRT) | ||
| NR_125865.1:n.431_433delinsAGT (SCIRT) | ||
| NM_001318876.2:c.946-444584_946-444582delinsACT (POLR1C) | NP_001305805.1:n.946-444584_946-444582delinsACT |