Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269985_31269986delinsCA , CM000668.2:g.31269985_31269986delinsCA | GRCh38 |
| NC_000006.11:g.31237762_31237763delinsCA , CM000668.1:g.31237762_31237763delinsCA | GRCh37 |
| NC_000006.10:g.31345741_31345742delinsCA | NCBI36 |
| NG_029422.2:g.7146_7147delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.995_996delinsTG MANE Select | ENSP00000365402.5:p.Met332= | |
| ENST00000376228.9:c.995_996delinsTG | ENSP00000365402.5:p.Met332= | |
| ENST00000376237.8:c.*582_*583delinsTG | ENSP00000365412.4:n.*582_*583delinsTG | |
| ENST00000383329.7:c.995_996delinsTG | ENSP00000372819.3:p.Met332= | |
| ENST00000470363.5:n.313_314delinsTG | ||
| ENST00000487245.5:n.1354_1355delinsTG | ||
| NM_002117.5:c.995_996delinsTG | NP_002108.4:p.Met332= | |
| NM_002117.6:c.995_996delinsTG MANE Select | NP_002108.4:p.Met332= |