Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332120_47332122del , CM000673.2:g.47332120_47332122del | GRCh38 |
| NC_000011.9:g.47353671_47353673del , CM000673.1:g.47353671_47353673del | GRCh37 |
| NC_000011.8:g.47310247_47310249del | NCBI36 |
| NG_007667.1:g.25584_25586del , LRG_386:g.25584_25586del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3767_3769del MANE Select | ENSP00000442795.1:p.Thr1256del | |
| ENST00000256993.8:c.3767_3769del | ENSP00000256993.5:p.Thr1256del | |
| ENST00000399249.6:c.3767_3769del | ENSP00000382193.2:p.Thr1256del | |
| ENST00000545968.5:c.3767_3769del | ENSP00000442795.1:p.Thr1256del | |
| NM_000256.3:c.3767_3769del , LRG_386t1:c.3767_3769del MANE Select | NP_000247.2:p.Thr1256del | |
| XM_011520117.1:c.3749_3751del | XP_011518419.1:p.Thr1250del | |
| XM_011520118.1:c.3686_3688del | XP_011518420.1:p.Thr1229del |