Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103776075_103777001del , CM000685.2:g.103776075_103777001del | GRCh38 |
| NC_000023.10:g.103031003_103031929del , CM000685.1:g.103031003_103031929del | GRCh37 |
| NC_000023.9:g.102917659_102918585del | NCBI36 |
| NG_008863.2:g.4565_5491del | |
| NG_016452.2:g.60282_61208del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000422393.5:c.-144+468_4+2del | |
| ENST00000434483.5:c.-143-778_4+2del | |
| ENST00000455268.5:c.-144+576_4+2del | |
| ENST00000494475.5:c.-143-778_4+2del | |
| XR_244483.3:n.863-348_1441del |