Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342513_47342744del , CM000673.2:g.47342513_47342744del | GRCh38 |
| NC_000011.9:g.47364064_47364295del , CM000673.1:g.47364064_47364295del | GRCh37 |
| NC_000011.8:g.47320640_47320871del | NCBI36 |
| NG_007667.1:g.14961_15192del , LRG_386:g.14961_15192del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1460_1624+67del | ||
| ENST00000256993.8:c.1460_1624+67del | ||
| ENST00000399249.6:c.1460_1624+67del | ||
| ENST00000544791.1:c.1460_1624+67del | ||
| ENST00000545968.5:c.1460_1624+67del | ||
| NM_000256.3:c.1460_1624+67del , LRG_386t1:c.1460_1624+67del | ||
| XM_011520117.1:c.1442_1606+67del | ||
| XM_011520118.1:c.1460_1624+67del |