Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693909_153693913dup , CM000685.2:g.153693909_153693913dup | GRCh38 |
| NC_000023.10:g.152959364_152959368dup , CM000685.1:g.152959364_152959368dup | GRCh37 |
| NC_000023.9:g.152612558_152612562dup | NCBI36 |
| NG_012016.1:g.10613_10617dup | |
| NG_012016.2:g.10613_10617dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1146_1150dup | ||
| ENST00000253122.9:c.1146_1150dup | ||
| ENST00000413787.1:c.258-295_258-291dup | ENSP00000400463.1:n.258-295_258-291dup | |
| ENST00000430077.6:c.801_805dup | ||
| ENST00000442457.1:c.200_204dup | ||
| ENST00000457723.1:c.130_134dup | ||
| ENST00000467402.1:n.245_249dup | ||
| ENST00000485324.1:n.1179_1183dup | ||
| NM_001142805.1:c.1116_1120dup | ||
| NM_001142806.1:c.801_805dup | ||
| NM_005629.3:c.1146_1150dup | ||
| NM_005629.4:c.1146_1150dup | ||
| NM_001142805.2:c.1116_1120dup |