Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107216_91107217insAA , CM000674.2:g.91107216_91107217insAA | GRCh38 |
| NC_000012.11:g.91500993_91500994insAA , CM000674.1:g.91500993_91500994insAA | GRCh37 |
| NC_000012.10:g.90025124_90025125insAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+902_862+903insTT MANE Select | ENSP00000266718.4:n.862+902_862+903insTT | |
| ENST00000266718.4:c.862+902_862+903insTT | ENSP00000266718.4:n.862+902_862+903insTT | |
| ENST00000546642.1:n.612+902_612+903insTT | ||
| ENST00000548071.1:n.255+902_255+903insTT | ||
| NM_002345.3:c.862+902_862+903insTT | NP_002336.1:n.862+902_862+903insTT | |
| NM_002345.4:c.862+902_862+903insTT MANE Select | NP_002336.1:n.862+902_862+903insTT |