Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073038_29073041delinsTCTG , CM000664.2:g.29073038_29073041delinsTCTG | GRCh38 |
| NC_000002.11:g.29295904_29295907delinsTCTG , CM000664.1:g.29295904_29295907delinsTCTG | GRCh37 |
| NC_000002.10:g.29149408_29149411delinsTCTG | NCBI36 |
| NG_021427.1:g.6221_6224delinsCAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1221_1224delinsCAGA MANE Select | ENSP00000332809.4:p.Gly407= | |
| ENST00000331664.5:c.1221_1224delinsCAGA | ENSP00000332809.4:p.Gly407= | |
| NM_001029883.2:c.1221_1224delinsCAGA | NP_001025054.1:p.Gly407= | |
| XM_011532826.1:c.1221_1224delinsCAGA | XP_011531128.1:p.Gly407= | |
| XR_939901.1:n.185+3871_185+3874delinsTCTG | ||
| XR_939902.1:n.173+3883_173+3886delinsTCTG | ||
| NM_001029883.3:c.1221_1224delinsCAGA MANE Select | NP_001025054.1:p.Gly407= |