Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850254_94850257del , CM000672.2:g.94850254_94850257del | GRCh38 |
| NC_000010.10:g.96610011_96610014del , CM000672.1:g.96610011_96610014del | GRCh37 |
| NC_000010.9:g.96600001_96600004del | NCBI36 |
| NG_008384.2:g.92549_92552del | |
| NG_008384.3:g.92574_92577del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1291+196_1291+199del MANE Select | ENSP00000360372.3:n.1291+196_1291+199del | |
| ENST00000645461.1:n.2202+196_2202+199del | ||
| ENST00000371321.7:c.1291+196_1291+199del | ENSP00000360372.3:n.1291+196_1291+199del | |
| ENST00000464755.1:c.2054+196_2054+199del | ENSP00000483243.1:n.2054+196_2054+199del | |
| NM_000769.2:c.1291+196_1291+199del | NP_000760.1:n.1291+196_1291+199del | |
| NM_000769.4:c.1291+196_1291+199del MANE Select | NP_000760.1:n.1291+196_1291+199del |