Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767513_28767515dup , CM000676.2:g.28767513_28767515dup | GRCh38 |
| NC_000014.8:g.29236719_29236721dup , CM000676.1:g.29236719_29236721dup | GRCh37 |
| NC_000014.7:g.28306470_28306472dup | NCBI36 |
| NG_009367.1:g.5433_5435dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.234_236dup MANE Select | NP_005240.3:p.Pro79_Pro80insPro |
| ENST00000313071.7:c.234_236dup MANE Select | ENSP00000339004.3:p.Pro79_Pro80insPro |
| NM_005249.4:c.234_236dup | NP_005240.3:p.Pro79_Pro80insPro |
| ENST00000313071.6:c.234_236dup | ENSP00000339004.3:p.Pro79_Pro80insPro |
| ENST00000706482.1:c.234_236dup | ENSP00000516406.1:p.Pro79_Pro80insPro |