Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658702_10658703insA , CM000682.2:g.10658702_10658703insA | GRCh38 |
| NC_000020.10:g.10639350_10639351insA , CM000682.1:g.10639350_10639351insA | GRCh37 |
| NC_000020.9:g.10587350_10587351insA | NCBI36 |
| NG_007496.1:g.20344_20345insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.459_460insT MANE Select | ENSP00000254958.4:p.Lys154Ter | |
| ENST00000254958.9:c.459_460insT | ENSP00000254958.4:p.Lys154Ter | |
| ENST00000423891.6:n.325_326insT | ||
| NM_000214.2:c.459_460insT | NP_000205.1:p.Lys154Ter | |
| NM_000214.3:c.459_460insT MANE Select | NP_000205.1:p.Lys154Ter |