Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144213_38144216delinsTCTC , CM000670.2:g.38144213_38144216delinsTCTC | GRCh38 |
| NC_000008.10:g.38001731_38001734delinsTCTC , CM000670.1:g.38001731_38001734delinsTCTC | GRCh37 |
| NC_000008.9:g.38120888_38120891delinsTCTC | NCBI36 |
| NG_011827.1:g.11867_11870delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*57_*60delinsGAGA MANE Select | ENSP00000276449.3:n.*57_*60delinsGAGA | |
| ENST00000276449.8:c.*57_*60delinsGAGA | ENSP00000276449.3:n.*57_*60delinsGAGA | |
| ENST00000520114.1:n.2884_2887delinsGAGA | ||
| NM_000349.2:c.*57_*60delinsGAGA | NP_000340.2:n.*57_*60delinsGAGA | |
| XM_006716392.1:c.821_824delinsGAGA | XP_006716455.1:p.Gly274= | |
| NM_000349.3:c.*57_*60delinsGAGA MANE Select | NP_000340.2:n.*57_*60delinsGAGA |