Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6248247dup , CM000668.2:g.6248247dup | GRCh38 |
| NC_000006.11:g.6248480dup , CM000668.1:g.6248480dup | GRCh37 |
| NC_000006.10:g.6193479dup | NCBI36 |
| NG_008107.1:g.77445dup , LRG_549:g.77445dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.798+65dup MANE Select | ENSP00000264870.3:n.798+65dup | |
| ENST00000264870.7:c.798+65dup | ENSP00000264870.3:n.798+65dup | |
| NM_000129.3:c.798+65dup , LRG_549t1:c.798+65dup | NP_000120.2:n.798+65dup | |
| XM_006715010.2:c.798+65dup | XP_006715073.1:n.798+65dup | |
| XM_011514342.1:c.960+65dup | XP_011512644.1:n.960+65dup | |
| NM_000129.4:c.798+65dup MANE Select | NP_000120.2:n.798+65dup |