Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450177_56450178del , CM000674.2:g.56450177_56450178del | GRCh38 |
| NC_000012.11:g.56843961_56843962del , CM000674.1:g.56843961_56843962del | GRCh37 |
| NC_000012.10:g.55130228_55130229del | NCBI36 |
| NG_021397.1:g.9477_9478del | |
| NG_021397.2:g.23992_23993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1521_*1522del | ENSP00000497190.1:n.*1521_*1522del | |
| ENST00000652304.1:c.*1105_*1106del MANE Select | ENSP00000498622.1:n.*1105_*1106del | |
| ENST00000257979.4:c.*1105_*1106del | ENSP00000257979.4:n.*1105_*1106del | |
| NM_012064.3:c.*1105_*1106del | NP_036196.1:n.*1105_*1106del | |
| XM_011538354.1:c.*1105_*1106del | XP_011536656.1:n.*1105_*1106del | |
| NM_012064.4:c.*1105_*1106del MANE Select | NP_036196.1:n.*1105_*1106del | |
| XM_017019306.1:c.*1105_*1106del | XP_016874795.1:n.*1105_*1106del |