Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175455_70175457del , CM000679.2:g.70175455_70175457del | GRCh38 |
| NC_000017.10:g.68171596_68171598del , CM000679.1:g.68171596_68171598del | GRCh37 |
| NC_000017.9:g.65683191_65683193del | NCBI36 |
| NG_008798.1:g.10921_10923del , LRG_328:g.10921_10923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.416_418del MANE Select | ENSP00000243457.2:p.Thr139_Gln140delinsLys | |
| ENST00000243457.3:c.416_418del | ENSP00000243457.2:p.Thr139_Gln140delinsLys | |
| ENST00000535240.1:c.416_418del | ENSP00000441848.1:p.Thr139_Gln140delinsLys | |
| NM_000891.2:c.416_418del , LRG_328t1:c.416_418del | NP_000882.1:p.Thr139_Gln140delinsLys | |
| XM_011524779.1:c.416_418del | XP_011523081.1:p.Thr139_Gln140delinsLys | |
| NM_000891.3:c.416_418del MANE Select | NP_000882.1:p.Thr139_Gln140delinsLys |