Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675405_52675408delinsGGCC , CM000674.2:g.52675405_52675408delinsGGCC | GRCh38 |
| NC_000012.11:g.53069189_53069192delinsGGCC , CM000674.1:g.53069189_53069192delinsGGCC | GRCh37 |
| NC_000012.10:g.51355456_51355459delinsGGCC | NCBI36 |
| NG_008364.1:g.10000_10003delinsGGCC | |
| NG_008364.2:g.10000_10003delinsGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1720_1723delinsGGCC MANE Select | ENSP00000252244.3:p.Gly574= | |
| NM_006121.3:c.1720_1723delinsGGCC | NP_006112.3:p.Gly574= | |
| NM_006121.4:c.1720_1723delinsGGCC MANE Select | NP_006112.3:p.Gly574= |