Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202547085_202553904del , CM000664.2:g.202547085_202553904del | GRCh38 |
| NC_000002.11:g.203411808_203418627del , CM000664.1:g.203411808_203418627del | GRCh37 |
| NC_000002.10:g.203120053_203126872del | NCBI36 |
| NG_009363.1:g.175759_182578del , LRG_712:g.175759_182578del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.1413+4638_1586+1016del | ||
| ENST00000638587.1:c.1344+4638_1517+1016del | ||
| ENST00000374574.2:c.1413+4638_1586+1016del | ||
| ENST00000374580.8:c.1413+4638_1586+1016del | ||
| NM_001204.6:c.1413+4638_1586+1016del , LRG_712t1:c.1413+4638_1586+1016del | ||
| XM_011511687.1:c.1413+4638_1586+1016del | ||
| XM_011511688.1:c.1413+4638_1586+1016del | ||
| NM_001204.7:c.1413+4638_1586+1016del |