Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251477_193251478insC , CM000663.2:g.193251477_193251478insC | GRCh38 |
| NC_000001.10:g.193220607_193220608insC , CM000663.1:g.193220607_193220608insC | GRCh37 |
| NC_000001.9:g.191487230_191487231insC | NCBI36 |
| NG_012691.1:g.134520_134521insC , LRG_507:g.134520_134521insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*765_*766insC MANE Select | ENSP00000356405.4:n.*765_*766insC | |
| ENST00000635846.1:c.*765_*766insC | ENSP00000490035.1:n.*765_*766insC | |
| ENST00000643006.1:c.*1271_*1272insC | ENSP00000496633.1:n.*1271_*1272insC | |
| ENST00000367435.3:c.*765_*766insC | ENSP00000356405.3:n.*765_*766insC | |
| NM_024529.4:c.*765_*766insC , LRG_507t1:c.*765_*766insC | NP_078805.3:n.*765_*766insC | |
| NM_024529.5:c.*765_*766insC MANE Select | NP_078805.3:n.*765_*766insC |