Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183243181_183243182insGCCTTATCA , CM000663.2:g.183243181_183243182insGCCTTATCA | GRCh38 |
| NC_000001.10:g.183212316_183212317insGCCTTATCA , CM000663.1:g.183212316_183212317insGCCTTATCA | GRCh37 |
| NC_000001.9:g.181478939_181478940insGCCTTATCA | NCBI36 |
| NG_007079.2:g.61918_61919insGCCTTATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.3363_3364insGCCTTATCA MANE Select | ENSP00000264144.4:p.Val1121_Leu1122insAlaLeuSer | |
| ENST00000264144.4:c.3363_3364insGCCTTATCA | ENSP00000264144.4:p.Val1121_Leu1122insAlaLeuSer | |
| NM_005562.2:c.3363_3364insGCCTTATCA | NP_005553.2:p.Val1121_Leu1122insAlaLeuSer | |
| NM_005562.3:c.3363_3364insGCCTTATCA MANE Select | NP_005553.2:p.Val1121_Leu1122insAlaLeuSer |