Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23211214_23211215delinsCA , CM000678.2:g.23211214_23211215delinsCA | GRCh38 |
| NC_000016.9:g.23222535_23222536delinsCA , CM000678.1:g.23222535_23222536delinsCA | GRCh37 |
| NC_000016.8:g.23130036_23130037delinsCA | NCBI36 |
| NG_011909.1:g.33496_33497delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.1177-820_1177-819delinsCA MANE Select | ENSP00000300061.2:n.1177-820_1177-819delinsCA | |
| ENST00000300061.2:c.1177-820_1177-819delinsCA | ENSP00000300061.2:n.1177-820_1177-819delinsCA | |
| NM_001039.3:c.1177-820_1177-819delinsCA | NP_001030.2:n.1177-820_1177-819delinsCA | |
| NM_001039.4:c.1177-820_1177-819delinsCA MANE Select | NP_001030.2:n.1177-820_1177-819delinsCA |