Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003917_47003918insTCAC , CM000681.2:g.47003917_47003918insTCAC | GRCh38 |
| NC_000019.9:g.47507174_47507175insTCAC , CM000681.1:g.47507174_47507175insTCAC | GRCh37 |
| NC_000019.8:g.52199014_52199015insTCAC | NCBI36 |
| NG_047014.1:g.90351_90352insTCAC | |
| NG_047014.2:g.147921_147922insTCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7729_7730insTCAC | ENSP00000385720.2:n.7729_7730insTCAC | |
| ENST00000672722.1:c.*3229_*3230insTCAC MANE Select | ENSP00000500409.1:n.*3229_*3230insTCAC | |
| ENST00000404338.7:c.7729_7730insTCAC | ENSP00000385720.2:n.7729_7730insTCAC | |
| ENST00000614079.1:c.7306_7307insTCAC | ENSP00000483730.1:n.7306_7307insTCAC | |
| NM_004491.4:c.7729_7730insTCAC | NP_004482.4:n.7729_7730insTCAC | |
| NM_004491.5:c.*3229_*3230insTCAC MANE Select | NP_004482.4:n.*3229_*3230insTCAC |