Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308321_30308322delinsTC , CM000685.2:g.30308321_30308322delinsTC | GRCh38 |
| NC_000023.10:g.30326438_30326439delinsTC , CM000685.1:g.30326438_30326439delinsTC | GRCh37 |
| NC_000023.9:g.30236359_30236360delinsTC | NCBI36 |
| NG_009814.1:g.6057_6058delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1042_1043delinsGA MANE Select | ENSP00000368253.4:p.Glu348= | |
| ENST00000378963.1:c.157_158delinsGA | ENSP00000368246.1:p.Glu53= | |
| ENST00000378970.4:c.1042_1043delinsGA | ENSP00000368253.4:p.Glu348= | |
| NM_000475.4:c.1042_1043delinsGA | NP_000466.2:p.Glu348= | |
| NM_000475.5:c.1042_1043delinsGA MANE Select | NP_000466.2:p.Glu348= |