Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610423_1610432dup , CM000668.2:g.1610423_1610432dup | GRCh38 |
| NC_000006.11:g.1610658_1610667dup , CM000668.1:g.1610658_1610667dup | GRCh37 |
| NC_000006.10:g.1555657_1555666dup | NCBI36 |
| NG_009368.1:g.4978_4987dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-23_-14dup MANE Select | ENSP00000493906.1:n.-23_-14dup | |
| ENST00000380874.3:c.-23_-14dup | ENSP00000370256.2:n.-23_-14dup | |
| NM_001453.3:c.-23_-14dup MANE Select | NP_001444.2:n.-23_-14dup |