Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226980dup , CM000664.2:g.29226980dup | GRCh38 |
| NC_000002.11:g.29449846dup , CM000664.1:g.29449846dup | GRCh37 |
| NC_000002.10:g.29303350dup | NCBI36 |
| NG_009445.1:g.699588dup , LRG_488:g.699588dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3010dup MANE Select | ENSP00000373700.3:p.Val1004GlyfsTer6 | |
| ENST00000431873.6:c.176dup | ||
| ENST00000389048.7:c.3010dup | ENSP00000373700.3:p.Val1004GlyfsTer6 | |
| ENST00000618119.4:c.1879dup | ENSP00000482733.1:p.Val627GlyfsTer6 | |
| NM_004304.4:c.3010dup | NP_004295.2:p.Val1004GlyfsTer6 | |
| XM_024452778.1:c.163dup | XP_024308546.1:p.Val55GlyfsTer6 | |
| XR_001738688.2:n.3866dup | ||
| NM_004304.5:c.3010dup MANE Select | NP_004295.2:p.Val1004GlyfsTer6 |