Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965573_37965574delinsGC , CM000670.2:g.37965573_37965574delinsGC | GRCh38 |
| NC_000008.10:g.37823091_37823092delinsGC , CM000670.1:g.37823091_37823092delinsGC | GRCh37 |
| NC_000008.9:g.37942248_37942249delinsGC | NCBI36 |
| NG_011936.1:g.6093_6094delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.896_897delinsGC MANE Select | ENSP00000343782.3:p.Gly299= | |
| ENST00000520341.2:n.1024_1025delinsGC | ||
| ENST00000647937.1:c.380_381delinsGC | ENSP00000497740.1:p.Gly127= | |
| ENST00000345060.4:c.896_897delinsGC | ENSP00000343782.3:p.Gly299= | |
| ENST00000520341.1:n.171_172delinsGC | ||
| ENST00000614635.1:c.896_897delinsGC | ENSP00000480325.1:p.Gly299= | |
| NM_000025.2:c.896_897delinsGC | NP_000016.1:p.Gly299= | |
| NM_000025.3:c.896_897delinsGC MANE Select | NP_000016.1:p.Gly299= |