ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180651497_180651500del , CM000665.2:g.180651497_180651500del | GRCh38 |
| NC_000003.11:g.180369285_180369288del , CM000665.1:g.180369285_180369288del | GRCh37 |
| NC_000003.10:g.181851979_181851982del | NCBI36 |
| NG_029581.1:g.33001_33004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1073_1076del MANE Select | ENSP00000417960.2:p.Thr358AsnfsTer2 | |
| ENST00000650641.1:n.960_963del | ||
| ENST00000650889.1:n.1464_1467del | ||
| ENST00000651046.1:c.881_884del | ENSP00000499175.1:p.Thr294AsnfsTer2 | |
| ENST00000651818.1:n.1023_1026del | ||
| ENST00000651922.1:n.398_401del | ||
| ENST00000652024.1:n.972_975del | ||
| ENST00000652408.1:n.1210_1213del | ||
| ENST00000442201.6:c.1073_1076del | ENSP00000405708.2:p.Thr358AsnfsTer2 | |
| ENST00000476379.5:c.1073_1076del | ENSP00000417960.1:p.Thr358AsnfsTer2 | |
| NM_181426.1:c.1073_1076del | NP_852091.1:p.Thr358AsnfsTer2 | |
| NM_181426.2:c.1073_1076del MANE Select | NP_852091.1:p.Thr358AsnfsTer2 |