Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542006_202547980del , CM000664.2:g.202542006_202547980del | GRCh38 |
| NC_000002.11:g.203406729_203412703del , CM000664.1:g.203406729_203412703del | GRCh37 |
| NC_000002.10:g.203114974_203120948del | NCBI36 |
| NG_009363.1:g.170680_176654del , LRG_712:g.170680_176654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1277-305_1414-4736del | ||
| ENST00000638587.1:c.1208-305_1345-4736del | ||
| ENST00000374574.2:c.1277-305_1414-4736del | ||
| ENST00000374580.8:c.1277-305_1414-4736del | ||
| NM_001204.6:c.1277-305_1414-4736del , LRG_712t1:c.1277-305_1414-4736del | ||
| XM_011511687.1:c.1277-305_1414-4736del | ||
| XM_011511688.1:c.1277-305_1414-4736del | ||
| NM_001204.7:c.1277-305_1414-4736del |