Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10147644_10152768del , CM000665.2:g.10147644_10152768del | GRCh38 |
| NC_000003.11:g.10189328_10194452del , CM000665.1:g.10189328_10194452del | GRCh37 |
| NC_000003.10:g.10164328_10169452del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.463+1008_*2803del | ||
| ENST00000256474.3:c.463+1008_*2803del | ||
| NM_000551.4:c.463+1008_*2803del | ||
| NM_001354723.2:c.*18-2143_*2999del | ||
| NM_198156.3:c.341-2143_*2803del |