Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141773_10142189dup , CM000665.2:g.10141773_10142189dup | GRCh38 |
| NC_000003.11:g.10183457_10183873dup , CM000665.1:g.10183457_10183873dup | GRCh37 |
| NC_000003.10:g.10158457_10158873dup | NCBI36 |
| NG_008212.3:g.5139_5555dup , LRG_322:g.5139_5555dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.3:c.-75_340+2dup , LRG_322t1:c.-75_340+2dup | |
| NM_001354723.1:c.-75_340+2dup | |
| NM_198156.2:c.-75_340+2dup | |
| ENST00000256474.2:c.-75_340+2dup | |
| XM_011534078.1:c.-75_340+2dup |