Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009085_75009086delinsCA , CM000676.2:g.75009085_75009086delinsCA | GRCh38 |
| NC_000014.8:g.75475788_75475789delinsCA , CM000676.1:g.75475788_75475789delinsCA | GRCh37 |
| NC_000014.7:g.74545541_74545542delinsCA | NCBI36 |
| NG_013333.1:g.11177_11178delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.953_954delinsCA MANE Select | ENSP00000266126.5:p.Pro318= | |
| ENST00000266126.9:c.953_954delinsCA | ENSP00000266126.5:p.Pro318= | |
| ENST00000556668.1:n.533_534delinsCA | ||
| NM_014239.3:c.953_954delinsCA | NP_055054.1:p.Pro318= | |
| NM_014239.4:c.953_954delinsCA MANE Select | NP_055054.1:p.Pro318= |