Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843549_102843732dup , CM000674.2:g.102843549_102843732dup | GRCh38 |
| NC_000012.11:g.103237327_103237510dup , CM000674.1:g.103237327_103237510dup | GRCh37 |
| NC_000012.10:g.101761457_101761640dup | NCBI36 |
| NG_008690.2:g.119679_119862dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.1113_1199+97dup | |
| NM_000277.3:c.1113_1199+97dup | |
| NM_001354304.1:c.1113_1199+97dup | |
| NM_001354304.2:c.1113_1199+97dup | |
| ENST00000307000.7:c.1098_1184+97dup | |
| ENST00000549247.6:n.872_958+97dup | |
| ENST00000551114.2:n.775_861+97dup | |
| ENST00000553106.5:c.1113_1199+97dup | |
| ENST00000553106.6:c.1113_1199+97dup | |
| ENST00000635477.1:c.217_303+97dup | |
| ENST00000635528.1:n.628_714+97dup | |
| XM_011538422.1:c.1056_1142+97dup |