Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507137_14507138insTT , CM000674.2:g.14507137_14507138insTT | GRCh38 |
| NC_000012.11:g.14660071_14660072insTT , CM000674.1:g.14660071_14660072insTT | GRCh37 |
| NC_000012.10:g.14551338_14551339insTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1187-20_1187-19insAA MANE Select | ENSP00000240617.5:n.1187-20_1187-19insAA | |
| ENST00000240617.9:c.1187-20_1187-19insAA | ENSP00000240617.5:n.1187-20_1187-19insAA | |
| NM_024829.5:c.1187-20_1187-19insAA | NP_079105.4:n.1187-20_1187-19insAA | |
| NM_024829.6:c.1187-20_1187-19insAA MANE Select | NP_079105.4:n.1187-20_1187-19insAA |