Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625030_22625037delinsTCAAAAGC , CM000673.2:g.22625030_22625037delinsTCAAAAGC | GRCh38 |
| NC_000011.9:g.22646576_22646583delinsTCAAAAGC , CM000673.1:g.22646576_22646583delinsTCAAAAGC | GRCh37 |
| NC_000011.8:g.22603152_22603159delinsTCAAAAGC | NCBI36 |
| NG_007425.1:g.5805_5812delinsGCTTTTGA , LRG_527:g.5805_5812delinsGCTTTTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.774_781delinsGCTTTTGA MANE Select | ENSP00000330875.3:p.Gly258= | |
| ENST00000327470.4:c.774_781delinsGCTTTTGA | ENSP00000330875.3:p.Gly258= | |
| NM_022725.3:c.774_781delinsGCTTTTGA , LRG_527t1:c.774_781delinsGCTTTTGA | NP_073562.1:p.Gly258= | |
| NM_022725.4:c.774_781delinsGCTTTTGA MANE Select | NP_073562.1:p.Gly258= |