Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149787_10149803del , CM000665.2:g.10149787_10149803del | GRCh38 |
| NC_000003.11:g.10191471_10191487del , CM000665.1:g.10191471_10191487del | GRCh37 |
| NC_000003.10:g.10166471_10166487del | NCBI36 |
| NG_008212.3:g.13153_13169del , LRG_322:g.13153_13169del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*141_*157del | ||
| ENST00000696143.1:c.600_616del | ||
| ENST00000696153.1:c.575_591del | ||
| ENST00000256474.3:c.464_480del | ||
| ENST00000256474.2:c.464_480del | ||
| ENST00000345392.2:c.341_357del | ||
| ENST00000477538.1:n.600_616del | ||
| NM_000551.3:c.464_480del , LRG_322t1:c.464_480del | ||
| NM_198156.2:c.341_357del | ||
| NM_001354723.1:c.*18_*34del | ||
| NM_000551.4:c.464_480del | ||
| NM_001354723.2:c.*18_*34del | ||
| NM_198156.3:c.341_357del |