Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141849_10149966del , CM000665.2:g.10141849_10149966del | GRCh38 |
| NC_000003.11:g.10183533_10191650del , CM000665.1:g.10183533_10191650del | GRCh37 |
| NC_000003.10:g.10158533_10166650del | NCBI36 |
| NG_008212.3:g.5215_13332del , LRG_322:g.5215_13332del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.2_*320del | ||
| ENST00000696153.1:c.2_*1del | ||
| ENST00000256474.3:c.2_*1del | ||
| ENST00000256474.2:c.2_*1del | ||
| ENST00000345392.2:c.2_*1del | ||
| NM_000551.3:c.2_*1del , LRG_322t1:c.2_*1del | ||
| NM_198156.2:c.2_*1del | ||
| NM_001354723.1:c.2_*197del | ||
| NM_000551.4:c.2_*1del | ||
| NM_001354723.2:c.2_*197del | ||
| NM_198156.3:c.2_*1del |