Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955791_19955793delinsCTT , CM000670.2:g.19955791_19955793delinsCTT | GRCh38 |
| NC_000008.10:g.19813302_19813304delinsCTT , CM000670.1:g.19813302_19813304delinsCTT | GRCh37 |
| NC_000008.9:g.19857582_19857584delinsCTT | NCBI36 |
| NG_008855.1:g.21721_21723delinsCTT | |
| NG_008855.2:g.59075_59077delinsCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.776-50_776-48delinsCTT MANE Select | ENSP00000497642.1:n.776-50_776-48delinsCT... | |
| ENST00000311322.8:c.776-50_776-48delinsCTT | ENSP00000309757.6:n.776-50_776-48delinsCT... | |
| NM_000237.2:c.776-50_776-48delinsCTT | NP_000228.1:n.776-50_776-48delinsCTT | |
| NM_000237.3:c.776-50_776-48delinsCTT MANE Select | NP_000228.1:n.776-50_776-48delinsCTT |