Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202515407_202524196del , CM000664.2:g.202515407_202524196del | GRCh38 |
| NC_000002.11:g.203380130_203388919del , CM000664.1:g.203380130_203388919del | GRCh37 |
| NC_000002.10:g.203088375_203097164del | NCBI36 |
| NG_009363.1:g.144081_152870del , LRG_712:g.144081_152870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.621+428_967+3995del | ||
| ENST00000638587.1:c.552+428_898+3995del | ||
| ENST00000374574.2:c.621+428_967+3995del | ||
| ENST00000374580.8:c.621+428_967+3995del | ||
| NM_001204.6:c.621+428_967+3995del , LRG_712t1:c.621+428_967+3995del | ||
| XM_011511687.1:c.621+428_967+3995del | ||
| XM_011511688.1:c.621+428_967+3995del | ||
| NM_001204.7:c.621+428_967+3995del |