Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007251_25007265dup , CM000685.2:g.25007251_25007265dup | GRCh38 |
| NC_000023.10:g.25025368_25025382dup , CM000685.1:g.25025368_25025382dup | GRCh37 |
| NC_000023.9:g.24935289_24935303dup | NCBI36 |
| NG_008281.1:g.13689_13703dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1299_1313dup MANE Select | ENSP00000368332.4:p.Ala438_Ala439insAlaAlaAlaAlaAla | |
| ENST00000379044.4:c.1299_1313dup | ENSP00000368332.4:p.Ala438_Ala439insAlaAlaAlaAlaAla | |
| NM_139058.2:c.1299_1313dup | NP_620689.1:p.Ala438_Ala439insAlaAlaAlaAlaAla | |
| NM_139058.3:c.1299_1313dup MANE Select | NP_620689.1:p.Ala438_Ala439insAlaAlaAlaAlaAla |