Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30314003_30314004delinsTA , CM000672.2:g.30314003_30314004delinsTA | GRCh38 |
| NC_000010.10:g.30602932_30602933delinsTA , CM000672.1:g.30602932_30602933delinsTA | GRCh37 |
| NC_000010.9:g.30642938_30642939delinsTA | NCBI36 |
| NG_028096.1:g.40335_40336delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-33_1387-32delinsTA MANE Select | ENSP00000263063.3:n.1387-33_1387-32delinsTA | |
| ENST00000263063.8:c.1387-33_1387-32delinsTA | ENSP00000263063.3:n.1387-33_1387-32delinsTA | |
| ENST00000488290.5:n.3142-33_3142-32delinsTA | ||
| NM_018109.3:c.1387-33_1387-32delinsTA | NP_060579.3:n.1387-33_1387-32delinsTA | |
| NM_018109.4:c.1387-33_1387-32delinsTA MANE Select | NP_060579.3:n.1387-33_1387-32delinsTA |