Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542022_202547184del , CM000664.2:g.202542022_202547184del | GRCh38 |
| NC_000002.11:g.203406745_203411907del , CM000664.1:g.203406745_203411907del | GRCh37 |
| NC_000002.10:g.203114990_203120152del | NCBI36 |
| NG_009363.1:g.170696_175858del , LRG_712:g.170696_175858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1277-289_1413+4737del | ||
| ENST00000638587.1:c.1208-289_1344+4737del | ||
| ENST00000374574.2:c.1277-289_1413+4737del | ||
| ENST00000374580.8:c.1277-289_1413+4737del | ||
| NM_001204.6:c.1277-289_1413+4737del , LRG_712t1:c.1277-289_1413+4737del | ||
| XM_011511687.1:c.1277-289_1413+4737del | ||
| XM_011511688.1:c.1277-289_1413+4737del | ||
| NM_001204.7:c.1277-289_1413+4737del |