Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852819_102855231dup , CM000674.2:g.102852819_102855231dup | GRCh38 |
| NC_000012.11:g.103246597_103249009dup , CM000674.1:g.103246597_103249009dup | GRCh37 |
| NC_000012.10:g.101770727_101773139dup | NCBI36 |
| NG_008690.2:g.108181_110593dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.2:c.612_839dup | |
| NM_000277.3:c.612_839dup | |
| NM_001354304.1:c.612_839dup | |
| NM_001354304.2:c.612_839dup | |
| ENST00000307000.7:c.597_824dup | |
| ENST00000553106.5:c.612_839dup | |
| ENST00000553106.6:c.612_839dup | |
| XM_011538422.1:c.612_839dup |