Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071214dup , CM000664.2:g.38071214dup | GRCh38 |
| NC_000002.11:g.38298357dup , CM000664.1:g.38298357dup | GRCh37 |
| NC_000002.10:g.38151861dup | NCBI36 |
| NG_008386.2:g.9888dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.1140dup MANE Select | NP_000095.2:p.Val381CysfsTer7 |
| ENST00000610745.5:c.1140dup MANE Select | ENSP00000478561.1:p.Val381CysfsTer7 |
| NM_000104.3:c.1140dup | NP_000095.2:p.Val381CysfsTer7 |
| ENST00000490576.2:c.1140dup | ENSP00000478839.2:p.Val381CysfsTer7 |
| ENST00000492443.1:n.518dup | |
| ENST00000494864.1:c.27dup | ENSP00000479876.1:p.Val10CysfsTer7 |
| ENST00000610745.4:c.1140dup | ENSP00000478561.1:p.Val381CysfsTer7 |
| ENST00000613082.1:n.535dup | |
| ENST00000614273.1:c.1140dup | ENSP00000483678.1:p.Val381CysfsTer7 |