Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269995_31269998delinsGTGA , CM000668.2:g.31269995_31269998delinsGTGA | GRCh38 |
| NC_000006.11:g.31237772_31237775delinsGTGA , CM000668.1:g.31237772_31237775delinsGTGA | GRCh37 |
| NC_000006.10:g.31345751_31345754delinsGTGA | NCBI36 |
| NG_029422.2:g.7134_7137delinsTCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.983_986delinsTCAC MANE Select | ENSP00000365402.5:p.Val328= | |
| ENST00000376228.9:c.983_986delinsTCAC | ENSP00000365402.5:p.Val328= | |
| ENST00000376237.8:c.*570_*573delinsTCAC | ENSP00000365412.4:n.*570_*573delinsTCAC | |
| ENST00000383329.7:c.983_986delinsTCAC | ENSP00000372819.3:p.Val328= | |
| ENST00000470363.5:n.301_304delinsTCAC | ||
| ENST00000487245.5:n.1342_1345delinsTCAC | ||
| NM_002117.5:c.983_986delinsTCAC | NP_002108.4:p.Val328= | |
| NM_002117.6:c.983_986delinsTCAC MANE Select | NP_002108.4:p.Val328= |