Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10147075_10150956del , CM000665.2:g.10147075_10150956del | GRCh38 |
| NC_000003.11:g.10188759_10192640del , CM000665.1:g.10188759_10192640del | GRCh37 |
| NC_000003.10:g.10163759_10167640del | NCBI36 |
| NG_008212.3:g.10441_14322del , LRG_322:g.10441_14322del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*140+439_*1310del | ||
| ENST00000696143.1:c.600-2712_1769del | ||
| ENST00000696153.1:c.463+439_*991del | ||
| ENST00000256474.3:c.463+439_*991del | ||
| ENST00000256474.2:c.463+439_*991del | ||
| ENST00000345392.2:c.341-2712_*991del | ||
| NM_000551.3:c.463+439_*991del , LRG_322t1:c.463+439_*991del | ||
| NM_198156.2:c.341-2712_*991del | ||
| NM_001354723.1:c.*18-2712_*1187del | ||
| NM_000551.4:c.463+439_*991del | ||
| NM_001354723.2:c.*18-2712_*1187del | ||
| NM_198156.3:c.341-2712_*991del |