Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313998_30314002delinsATGAG , CM000672.2:g.30313998_30314002delinsATGAG | GRCh38 |
| NC_000010.10:g.30602927_30602931delinsATGAG , CM000672.1:g.30602927_30602931delinsATGAG | GRCh37 |
| NC_000010.9:g.30642933_30642937delinsATGAG | NCBI36 |
| NG_028096.1:g.40337_40341delinsCTCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-31_1387-27delinsCTCAT MANE Select | ENSP00000263063.3:n.1387-31_1387-27delinsCTCAT | |
| ENST00000263063.8:c.1387-31_1387-27delinsCTCAT | ENSP00000263063.3:n.1387-31_1387-27delinsCTCAT | |
| ENST00000488290.5:n.3142-31_3142-27delinsCTCAT | ||
| NM_018109.3:c.1387-31_1387-27delinsCTCAT | NP_060579.3:n.1387-31_1387-27delinsCTCAT | |
| NM_018109.4:c.1387-31_1387-27delinsCTCAT MANE Select | NP_060579.3:n.1387-31_1387-27delinsCTCAT |