Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202465115_202467788del , CM000664.2:g.202465115_202467788del | GRCh38 |
| NC_000002.11:g.203329838_203332511del , CM000664.1:g.203329838_203332511del | GRCh37 |
| NC_000002.10:g.203038083_203040756del | NCBI36 |
| NG_009363.1:g.93789_96462del , LRG_712:g.93789_96462del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.247+136_418+99del | ||
| ENST00000638587.1:c.176+132_349+99del | ||
| ENST00000374574.2:c.247+136_418+99del | ||
| ENST00000374580.8:c.247+136_418+99del | ||
| ENST00000479069.1:n.154+136_325+99del | ||
| NM_001204.6:c.247+136_418+99del , LRG_712t1:c.247+136_418+99del | ||
| XM_011511687.1:c.247+136_418+99del | ||
| XM_011511688.1:c.247+136_418+99del | ||
| NM_001204.7:c.247+136_418+99del |