Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52487972_52487973delinsAC , CM000674.2:g.52487972_52487973delinsAC | GRCh38 |
| NC_000012.11:g.52881756_52881757delinsAC , CM000674.1:g.52881756_52881757delinsAC | GRCh37 |
| NC_000012.10:g.51168023_51168024delinsAC | NCBI36 |
| NG_008298.1:g.10425_10426delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1460-18_1460-17delinsGT MANE Select | ENSP00000369317.3:n.1460-18_1460-17delinsGT | |
| ENST00000330722.6:c.1460-18_1460-17delinsGT | ENSP00000369317.3:n.1460-18_1460-17delinsGT | |
| NM_005554.3:c.1460-18_1460-17delinsGT | NP_005545.1:n.1460-18_1460-17delinsGT | |
| NM_005554.4:c.1460-18_1460-17delinsGT MANE Select | NP_005545.1:n.1460-18_1460-17delinsGT |