Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612758_1612762delinsCTTTT , CM000668.2:g.1612758_1612762delinsCTTTT | GRCh38 |
| NC_000006.11:g.1612993_1612997delinsCTTTT , CM000668.1:g.1612993_1612997delinsCTTTT | GRCh37 |
| NC_000006.10:g.1557992_1557996delinsCTTTT | NCBI36 |
| NG_009368.1:g.7313_7317delinsCTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*651_*655delinsCTTTT MANE Select | ENSP00000493906.1:n.*651_*655delinsCTTTT | |
| ENST00000380874.3:c.*651_*655delinsCTTTT | ENSP00000370256.2:n.*651_*655delinsCTTTT | |
| NM_001453.2:c.2313_2317delinsCTTTT | NP_001444.2:n.2313_2317delinsCTTTT | |
| NM_001453.3:c.*651_*655delinsCTTTT MANE Select | NP_001444.2:n.*651_*655delinsCTTTT |