Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146134_38146137delinsATCT , CM000670.2:g.38146134_38146137delinsATCT | GRCh38 |
| NC_000008.10:g.38003652_38003655delinsATCT , CM000670.1:g.38003652_38003655delinsATCT | GRCh37 |
| NC_000008.9:g.38122809_38122812delinsATCT | NCBI36 |
| NG_011827.1:g.9946_9949delinsAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.476_479delinsAGAT MANE Select | ENSP00000276449.3:p.Lys159= | |
| ENST00000276449.8:c.476_479delinsAGAT | ENSP00000276449.3:p.Lys159= | |
| ENST00000520114.1:n.963_966delinsAGAT | ||
| ENST00000522050.1:c.412_415delinsAGAT | ||
| NM_000349.2:c.476_479delinsAGAT | NP_000340.2:p.Lys159= | |
| XM_006716392.1:c.476_479delinsAGAT | XP_006716455.1:p.Lys159= | |
| NM_000349.3:c.476_479delinsAGAT MANE Select | NP_000340.2:p.Lys159= |