Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883445_100883456dup , CM000676.2:g.100883445_100883456dup | GRCh38 |
| NC_000014.8:g.101349782_101349793dup , CM000676.1:g.101349782_101349793dup | GRCh37 |
| NC_000014.7:g.100419535_100419546dup | NCBI36 |
| NG_045001.1:g.6396_6407dup | |
| NG_045000.5:g.52177_52188dup | |
| NG_045000.6:g.52177_52188dup | |
| NG_045001.2:g.25271_25282dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1337_1348dup MANE Select | ENSP00000497482.1:p.Glu449_Leu450insHisTyrValGlu | |
| ENST00000534062.1:c.1337_1348dup | ENSP00000435342.1:p.Glu449_Leu450insHisTyrValGlu | |
| NM_001134888.2:c.1337_1348dup | NP_001128360.1:p.Glu449_Leu450insHisTyrValGlu | |
| NM_001134888.3:c.1337_1348dup MANE Select | NP_001128360.1:p.Glu449_Leu450insHisTyrValGlu |