Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768439_28768440delinsGTC , CM000676.2:g.28768439_28768440delinsGTC | GRCh38 |
| NC_000014.8:g.29237645_29237646delinsGTC , CM000676.1:g.29237645_29237646delinsGTC | GRCh37 |
| NC_000014.7:g.28307396_28307397delinsGTC | NCBI36 |
| NG_009367.1:g.6359_6360delinsGTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.1160_1161delinsGTC MANE Select | NP_005240.3:p.Ser387CysfsTer? |
| ENST00000313071.7:c.1160_1161delinsGTC MANE Select | ENSP00000339004.3:p.Ser387CysfsTer? |
| NM_005249.4:c.1160_1161delinsGTC | NP_005240.3:p.Ser387CysfsTer? |
| ENST00000313071.6:c.1160_1161delinsGTC | ENSP00000339004.3:p.Ser387CysfsTer? |
| ENST00000706482.1:c.1160_1161delinsGTC | ENSP00000516406.1:p.Ser387CysfsTer? |