Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004006_47004007delinsGC , CM000681.2:g.47004006_47004007delinsGC | GRCh38 |
| NC_000019.9:g.47507263_47507264delinsGC , CM000681.1:g.47507263_47507264delinsGC | GRCh37 |
| NC_000019.8:g.52199103_52199104delinsGC | NCBI36 |
| NG_047014.1:g.90440_90441delinsGC | |
| NG_047014.2:g.148010_148011delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7818_7819delinsGC | ENSP00000385720.2:n.7818_7819delinsGC | |
| ENST00000672722.1:c.*3318_*3319delinsGC MANE Select | ENSP00000500409.1:n.*3318_*3319delinsGC | |
| ENST00000404338.7:c.7818_7819delinsGC | ENSP00000385720.2:n.7818_7819delinsGC | |
| ENST00000614079.1:c.7395_7396delinsGC | ENSP00000483730.1:n.7395_7396delinsGC | |
| NM_004491.4:c.7818_7819delinsGC | NP_004482.4:n.7818_7819delinsGC | |
| NM_004491.5:c.*3318_*3319delinsGC MANE Select | NP_004482.4:n.*3318_*3319delinsGC |