Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227001dup , CM000664.2:g.29227001dup | GRCh38 |
| NC_000002.11:g.29449867dup , CM000664.1:g.29449867dup | GRCh37 |
| NC_000002.10:g.29303371dup | NCBI36 |
| NG_009445.1:g.699566dup , LRG_488:g.699566dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2988dup MANE Select | ENSP00000373700.3:p.Met997HisfsTer4 | |
| ENST00000431873.6:c.154dup | ||
| ENST00000389048.7:c.2988dup | ENSP00000373700.3:p.Met997HisfsTer4 | |
| ENST00000618119.4:c.1857dup | ENSP00000482733.1:p.Met620HisfsTer4 | |
| NM_004304.4:c.2988dup | NP_004295.2:p.Met997HisfsTer4 | |
| XM_024452778.1:c.141dup | XP_024308546.1:p.Met48HisfsTer4 | |
| XR_001738688.2:n.3844dup | ||
| NM_004304.5:c.2988dup MANE Select | NP_004295.2:p.Met997HisfsTer4 |