Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694267_153694269dup , CM000685.2:g.153694267_153694269dup | GRCh38 |
| NC_000023.10:g.152959722_152959724dup , CM000685.1:g.152959722_152959724dup | GRCh37 |
| NC_000023.9:g.152612916_152612918dup | NCBI36 |
| NG_012016.1:g.10971_10973dup | |
| NG_012016.2:g.10971_10973dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1392_1392+2dup | ||
| ENST00000253122.9:c.1392_1392+2dup | ||
| ENST00000413787.1:c.321_321+2dup | ||
| ENST00000430077.6:c.1047_1047+2dup | ||
| ENST00000442457.1:c.446_446+2dup | ||
| ENST00000485324.1:n.1537_1539dup | ||
| NM_001142805.1:c.1362_1362+2dup | ||
| NM_001142806.1:c.1047_1047+2dup | ||
| NM_005629.3:c.1392_1392+2dup | ||
| NM_005629.4:c.1392_1392+2dup | ||
| NM_001142805.2:c.1362_1362+2dup |