Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737096_120737097delinsCA , CM000674.2:g.120737096_120737097delinsCA | GRCh38 |
| NC_000012.11:g.121174899_121174900delinsCA , CM000674.1:g.121174899_121174900delinsCA | GRCh37 |
| NC_000012.10:g.119659282_119659283delinsCA | NCBI36 |
| NG_007991.1:g.16329_16330delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.321_322delinsCA MANE Select | ENSP00000242592.4:p.Gly108Ser | |
| ENST00000242592.8:c.321_322delinsCA | ENSP00000242592.4:p.Gly108Ser | |
| ENST00000411593.2:c.321_322delinsCA | ENSP00000401045.2:p.Gly108Ser | |
| ENST00000539690.1:n.433_434delinsCA | ||
| NM_000017.3:c.321_322delinsCA | NP_000008.1:p.Gly108Ser | |
| NM_001302554.1:c.321_322delinsCA | NP_001289483.1:p.Gly108Ser | |
| NM_000017.4:c.321_322delinsCA MANE Select | NP_000008.1:p.Gly108Ser | |
| NM_001302554.2:c.321_322delinsCA | NP_001289483.1:p.Gly108Ser |