Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146514_10149967del , CM000665.2:g.10146514_10149967del | GRCh38 |
| NC_000003.11:g.10188198_10191651del , CM000665.1:g.10188198_10191651del | GRCh37 |
| NC_000003.10:g.10163198_10166651del | NCBI36 |
| NG_008212.3:g.9880_13333del , LRG_322:g.9880_13333del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*18_*321del | ||
| ENST00000696143.1:c.600-3273_780del | ||
| ENST00000696153.1:c.341_*2del | ||
| ENST00000256474.3:c.341_*2del | ||
| ENST00000256474.2:c.341_*2del | ||
| ENST00000345392.2:c.341-3273_*2del | ||
| ENST00000477538.1:n.477_780del | ||
| NM_000551.3:c.341_*2del , LRG_322t1:c.341_*2del | ||
| NM_198156.2:c.341-3273_*2del | ||
| NM_001354723.1:c.*18-3273_*198del | ||
| NM_000551.4:c.341_*2del | ||
| NM_001354723.2:c.*18-3273_*198del | ||
| NM_198156.3:c.341-3273_*2del |