Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450037_56450041del , CM000674.2:g.56450037_56450041del | GRCh38 |
| NC_000012.11:g.56843821_56843825del , CM000674.1:g.56843821_56843825del | GRCh37 |
| NC_000012.10:g.55130088_55130092del | NCBI36 |
| NG_021397.1:g.9612_9616del | |
| NG_021397.2:g.24127_24131del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1656_*1660del | ENSP00000497190.1:n.*1656_*1660del | |
| ENST00000652304.1:c.*1240_*1244del MANE Select | ENSP00000498622.1:n.*1240_*1244del | |
| ENST00000257979.4:c.*1240_*1244del | ENSP00000257979.4:n.*1240_*1244del | |
| NM_012064.3:c.*1240_*1244del | NP_036196.1:n.*1240_*1244del | |
| XM_011538354.1:c.*1240_*1244del | XP_011536656.1:n.*1240_*1244del | |
| NM_012064.4:c.*1240_*1244del MANE Select | NP_036196.1:n.*1240_*1244del | |
| XM_017019306.1:c.*1240_*1244del | XP_016874795.1:n.*1240_*1244del |