Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768344_28768345delinsCT , CM000676.2:g.28768344_28768345delinsCT | GRCh38 |
| NC_000014.8:g.29237550_29237551delinsCT , CM000676.1:g.29237550_29237551delinsCT | GRCh37 |
| NC_000014.7:g.28307301_28307302delinsCT | NCBI36 |
| NG_009367.1:g.6264_6265delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1065_1066delinsCT | ENSP00000516406.1:p.Ser355= | |
| ENST00000313071.7:c.1065_1066delinsCT MANE Select | ENSP00000339004.3:p.Ser355= | |
| ENST00000313071.6:c.1065_1066delinsCT | ENSP00000339004.3:p.Ser355= | |
| NM_005249.4:c.1065_1066delinsCT | NP_005240.3:p.Ser355= | |
| NM_005249.5:c.1065_1066delinsCT MANE Select | NP_005240.3:p.Ser355= |