Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183243180_183243181insGGTCGCCGTATC , CM000663.2:g.183243180_183243181insGGTCGCCGTATC | GRCh38 |
| NC_000001.10:g.183212315_183212316insGGTCGCCGTATC , CM000663.1:g.183212315_183212316insGGTCGCCGTATC | GRCh37 |
| NC_000001.9:g.181478938_181478939insGGTCGCCGTATC | NCBI36 |
| NG_007079.2:g.61917_61918insGGTCGCCGTATC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.3362_3363insGGTCGCCGTATC MANE Select | ENSP00000264144.4:p.Val1121_Leu1122insVal... | |
| ENST00000264144.4:c.3362_3363insGGTCGCCGTATC | ENSP00000264144.4:p.Val1121_Leu1122insVal... | |
| NM_005562.2:c.3362_3363insGGTCGCCGTATC | NP_005553.2:p.Val1121_Leu1122insValAlaVal... | |
| NM_005562.3:c.3362_3363insGGTCGCCGTATC MANE Select | NP_005553.2:p.Val1121_Leu1122insValAlaVal... |