ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221312_1221313del , CM000681.2:g.1221312_1221313del | GRCh38 |
| NC_000019.9:g.1221311_1221312del , CM000681.1:g.1221311_1221312del | GRCh37 |
| NC_000019.8:g.1172311_1172312del | NCBI36 |
| NG_007460.2:g.36906_36907del , LRG_319:g.36906_36907del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.834_835del | ENSP00000490268.2:p.Cys278TrpfsTer6 | |
| ENST00000585748.3:c.462_463del | ENSP00000477641.2:p.Cys154TrpfsTer6 | |
| ENST00000585851.2:c.660_661del | ENSP00000467912.2:p.Cys220TrpfsTer6 | |
| ENST00000326873.12:c.834_835del MANE Select | ENSP00000324856.6:p.Cys278TrpfsTer6 | |
| ENST00000652231.1:c.834_835del | ENSP00000498804.1:p.Cys278TrpfsTer6 | |
| ENST00000326873.11:c.834_835del | ENSP00000324856.6:p.Cys278TrpfsTer6 | |
| ENST00000586243.5:c.834_835del | ENSP00000467240.2:p.Cys278TrpfsTer6 | |
| ENST00000586358.5:n.732_733del | ||
| ENST00000589152.5:n.924_925del | ||
| ENST00000591133.2:n.805_806del | ||
| NM_000455.4:c.834_835del , LRG_319t1:c.834_835del | NP_000446.1:p.Cys278TrpfsTer6 | |
| XM_005259617.1:c.834_835del | XP_005259674.1:p.Cys278TrpfsTer6 | |
| XM_005259618.3:c.834_835del | XP_005259675.1:p.Cys278TrpfsTer6 | |
| XM_011528209.1:c.612_613del | XP_011526511.1:p.Cys204TrpfsTer6 | |
| XR_936204.1:n.1459_1460del | ||
| XM_005259617.3:c.834_835del | XP_005259674.1:p.Cys278TrpfsTer6 | |
| XM_011528209.2:c.612_613del | XP_011526511.1:p.Cys204TrpfsTer6 | |
| XR_001753738.2:n.1459_1460del | ||
| XR_001753739.1:n.1459_1460del | ||
| XR_001753740.2:n.1459_1460del | ||
| NM_000455.5:c.834_835del MANE Select | NP_000446.1:p.Cys278TrpfsTer6 |