Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450047_56450052dup , CM000674.2:g.56450047_56450052dup | GRCh38 |
| NC_000012.11:g.56843831_56843836dup , CM000674.1:g.56843831_56843836dup | GRCh37 |
| NC_000012.10:g.55130098_55130103dup | NCBI36 |
| NG_021397.1:g.9605_9610dup | |
| NG_021397.2:g.24120_24125dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1649_*1654dup | ENSP00000497190.1:n.*1649_*1654dup | |
| ENST00000652304.1:c.*1233_*1238dup MANE Select | ENSP00000498622.1:n.*1233_*1238dup | |
| ENST00000257979.4:c.*1233_*1238dup | ENSP00000257979.4:n.*1233_*1238dup | |
| NM_012064.3:c.*1233_*1238dup | NP_036196.1:n.*1233_*1238dup | |
| XM_011538354.1:c.*1233_*1238dup | XP_011536656.1:n.*1233_*1238dup | |
| NM_012064.4:c.*1233_*1238dup MANE Select | NP_036196.1:n.*1233_*1238dup | |
| XM_017019306.1:c.*1233_*1238dup | XP_016874795.1:n.*1233_*1238dup |