Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004466_25004467insATGGGC , CM000685.2:g.25004466_25004467insATGGGC | GRCh38 |
| NC_000023.10:g.25022583_25022584insATGGGC , CM000685.1:g.25022583_25022584insATGGGC | GRCh37 |
| NC_000023.9:g.24932504_24932505insATGGGC | NCBI36 |
| NG_008281.1:g.16486_16487insATGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.*207_*208insATGCCC MANE Select | ENSP00000368332.4:n.*207_*208insATGCCC | |
| ENST00000379044.4:c.*207_*208insATGCCC | ENSP00000368332.4:n.*207_*208insATGCCC | |
| NM_139058.2:c.*207_*208insATGCCC | NP_620689.1:n.*207_*208insATGCCC | |
| NM_139058.3:c.*207_*208insATGCCC MANE Select | NP_620689.1:n.*207_*208insATGCCC |