Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003951_47003952insCAC , CM000681.2:g.47003951_47003952insCAC | GRCh38 |
| NC_000019.9:g.47507208_47507209insCAC , CM000681.1:g.47507208_47507209insCAC | GRCh37 |
| NC_000019.8:g.52199048_52199049insCAC | NCBI36 |
| NG_047014.1:g.90385_90386insCAC | |
| NG_047014.2:g.147955_147956insCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7763_7764insCAC | ENSP00000385720.2:n.7763_7764insCAC | |
| ENST00000672722.1:c.*3263_*3264insCAC MANE Select | ENSP00000500409.1:n.*3263_*3264insCAC | |
| ENST00000404338.7:c.7763_7764insCAC | ENSP00000385720.2:n.7763_7764insCAC | |
| ENST00000614079.1:c.7340_7341insCAC | ENSP00000483730.1:n.7340_7341insCAC | |
| NM_004491.4:c.7763_7764insCAC | NP_004482.4:n.7763_7764insCAC | |
| NM_004491.5:c.*3263_*3264insCAC MANE Select | NP_004482.4:n.*3263_*3264insCAC |