Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79947541_79947553dup , CM000668.2:g.79947541_79947553dup | GRCh38 |
| NC_000006.11:g.80657258_80657270dup , CM000668.1:g.80657258_80657270dup | GRCh37 |
| NC_000006.10:g.80713977_80713989dup | NCBI36 |
| NG_009108.1:g.5048_5060dup | |
| NG_009108.2:g.5048_5060dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022726.4:c.-272_-260dup MANE Select | NP_073563.1:n.-272_-260dup |
| ENST00000369816.5:c.-272_-260dup MANE Select | ENSP00000358831.4:n.-272_-260dup |
| NM_022726.3:c.-272_-260dup | NP_073563.1:n.-272_-260dup |
| ENST00000369816.4:c.-272_-260dup | ENSP00000358831.4:n.-272_-260dup |