Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012872_25012873delinsGC , CM000685.2:g.25012872_25012873delinsGC | GRCh38 |
| NC_000023.10:g.25030989_25030990delinsGC , CM000685.1:g.25030989_25030990delinsGC | GRCh37 |
| NC_000023.9:g.24940910_24940911delinsGC | NCBI36 |
| NG_008281.1:g.8076_8077delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1073+49_1073+50delinsGC MANE Select | ENSP00000368332.4:n.1073+49_1073+50delinsGC | |
| ENST00000379044.4:c.1073+49_1073+50delinsGC | ENSP00000368332.4:n.1073+49_1073+50delinsGC | |
| NM_139058.2:c.1073+49_1073+50delinsGC | NP_620689.1:n.1073+49_1073+50delinsGC | |
| NM_139058.3:c.1073+49_1073+50delinsGC MANE Select | NP_620689.1:n.1073+49_1073+50delinsGC |